523 results match your criteria Dystrophy Lattice


Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin mutation.

Mol Vis 2020 2;26:345-354. Epub 2020 May 2.

Research Unit, Institute of Ophthalmology "Conde de Valenciana," Mexico City, Mexico.

Purpose: Familial amyloidosis of the Finnish type (FAF) is an inherited amyloidosis arising from mutations in the gelsolin protein (GSN). The disease includes facial paralysis, loose skin, and lattice corneal dystrophy. To date, FAF has been invariably associated with substitution of Asp214 in GSN. Read More

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7195602PMC

Altered Sarcomeric Structure and Function in Woody Breast Myopathy of Avian Pectoralis Major Muscle.

Front Physiol 2020 9;11:287. Epub 2020 Apr 9.

Thoracic Surgery, Department of Clinical Sciences, Lund, Faculty of Medicine, Lund University, Lund, Sweden.

The "Woody" or "Wooden" breast disease is a severe myopathy of pectoralis major muscle recently identified within rapidly growing broiler lines all around the world with a prevalence rate around 20%, or even higher. Although of significant ethical and economic impact, little is known regarding the structural and functional aspects of the contractile apparatus in the woody breast muscle. The aim of the present study was to determine physiological properties of the contractile system in the morphologically intact muscle fibers of focally damaged woody breast in comparison with normal muscle fibers to gain insight into the muscle function of the animal and possibly mechanisms involved in the disease development. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fphys.2020.00287DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7160512PMC

Generation of mouse model of TGFBI-R124C corneal dystrophy using CRISPR/Cas9-mediated homology-directed repair.

Sci Rep 2020 Feb 6;10(1):2000. Epub 2020 Feb 6.

Department of Regenerative Medicine, School of Medicine, Chiba University, Chiba, Japan.

Mutations in transforming growth factor-beta-induced (TGFBI) gene cause clinically distinct types of corneal dystrophies. To delineate the mechanisms driving these dystrophies, we focused on the R124C mutation in TGFBI that causes lattice corneal dystrophy type1 (LCD1) and generated novel transgenic mice harbouring a single amino acid substitution of arginine 124 with cysteine in TGFBI via ssODN-mediated base-pair substitution using CRISPR/Cas9 technology. Eighty percent of homozygous and 9. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-020-58876-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005300PMC
February 2020

Biochemical mechanisms of aggregation in TGFBI-linked corneal dystrophies.

Prog Retin Eye Res 2020 Jan 29:100843. Epub 2020 Jan 29.

Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark. Electronic address:

Transforming growth factor-β-induced protein (TGFBIp), an extracellular matrix protein, is the second most abundant protein in the corneal stroma. In this review, we summarize the current knowledge concerning the expression, molecular structure, binding partners, and functions of human TGFBIp. To date, 74 mutations in the transforming growth factor-β-induced gene (TGFBI) are associated with amyloid and amorphous protein deposition in TGFBI-linked corneal dystrophies. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.preteyeres.2020.100843DOI Listing
January 2020

Late-onset lattice corneal dystrophy associated TGFBI p.H626R mutation in members of a Canadian family.

Can J Ophthalmol 2019 12 30;54(6):e308-e311. Epub 2019 Apr 30.

Biomedical Sciences Research Institute, University of Ulster, Coleraine, United Kingdom. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jcjo.2019.03.007DOI Listing
December 2019

Amyloidosis and Ocular Involvement: an Overview.

Semin Ophthalmol 2020 Jan 12;35(1):7-26. Epub 2019 Dec 12.

Department of Biomedical Sciences and Human Oncology, University of Bari "Aldo Moro", Medical School, Bari, Italy.

: To describe the ophthalmic manifestations of amyloidosis and the corresponding therapeutic measures.: The 178 patients included in the study had different types of amyloidosis, diagnosed at a single internal medicine institution (Bari, Italy). To provide a comprehensive review of the types of amyloidosis that can be associated with ocular involvement, the images and clinical descriptions of patients with amyloidosis structurally related to gelsolin, keratoepithelin and lactoferrin were obtained in collaborations with the ophthalmology departments of hospitals in Mainz (Germany) and Helsinki (Finland). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/08820538.2019.1687738DOI Listing
January 2020

Distinct ocular surface soluble factor profile in human corneal dystrophies.

Ocul Surf 2020 04 19;18(2):237-248. Epub 2019 Nov 19.

GROW Research Laboratory, Narayana Nethralaya Foundation, Bengaluru, India. Electronic address:

Purpose: Corneal dystrophies (CD) are classified as rare eye diseases that results in visual impairment and requires corneal transplant in advanced stages. Ocular surface inflammatory status in different types of CD remains underexplored. Hence, we studied the levels of tear soluble factors in the tears of patients with various types of corneal dystrophies. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jtos.2019.11.007DOI Listing
April 2020
4 Reads

Introducing a mammalian nerve-muscle preparation ideal for physiology and microscopy, the transverse auricular muscle in the ear of the mouse.

Neuroscience 2020 Jul 24;439:80-105. Epub 2019 Jul 24.

Section on Integrative Biophysics, National Institute of Child Health & Human Development, National Institutes of Health, Bethesda, MD, U.S.A.

A new mammalian neuromuscular preparation is introduced for physiology and microscopy of all sorts: the intrinsic muscle of the mouse ear. The great utility of this preparation is demonstrated by illustrating how it has permitted us to develop a wholly new technique for staining muscle T-tubules, the critical conductive-elements in muscle. This involves sequential immersion in dilute solutions of osmium and ferrocyanide, then tannic acid, and then uranyl acetate, all of which totally blackens the T-tubules but leaves the muscle pale, thereby revealing that the T-tubules in mouse ear-muscles become severely distorted in several pathological conditions. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neuroscience.2019.07.028DOI Listing
July 2020
3 Reads

Clinical outcomes and time to recurrence of phototherapeutic keratectomy in Japan.

Medicine (Baltimore) 2019 Jul;98(27):e16216

Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto.

To assess the indications, outcomes and time to recurrence of phototherapeutic keratectomy (PTK) for anterior corneal pathology.This study involved 714 eyes of 477 consecutive patients (mean age: 66.0 ± 15. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MD.0000000000016216DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6635226PMC
July 2019
5 Reads

The serine protease HtrA1 cleaves misfolded transforming growth factor β-induced protein (TGFBIp) and induces amyloid formation.

J Biol Chem 2019 08 13;294(31):11817-11828. Epub 2019 Jun 13.

Department of Molecular Biology and Genetics, Aarhus University, 8000 Aarhus, Denmark

The serine protease high-temperature requirement protein A1 (HtrA1) is associated with protein-misfolding disorders such as Alzheimer's disease and transforming growth factor β-induced protein (TGFBIp)-linked corneal dystrophy. In this study, using several biochemical and biophysical approaches, including recombinant protein expression, LC-MS/MS and 2DE analyses, and thioflavin T (ThT) fluorescence assays for amyloid fibril detection, and FTIR assays, we investigated the role of HtrA1 both in normal TGFBIp turnover and in corneal amyloid formation. We show that HtrA1 can cleave WT TGFBIp but prefers amyloidogenic variants. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.RA119.009050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6682723PMC
August 2019
3 Reads

Self-assembling amyloid-like peptides as exogenous second harmonic probes for bioimaging applications.

J Biophotonics 2019 12 19;12(12):e201900065. Epub 2019 Jun 19.

Laboratory for Nanomedicine, Division of Biological & Environmental Science & Engineering, King Abdullah University of Science and Technology, Jeddah, Saudi Arabia.

Amyloid-like peptides are an ideal model for the mechanistic study of amyloidosis, which may lead to many human diseases, such as Alzheimer disease. This study reports a strong second harmonic generation (SHG) effect of amyloid-like peptides, having a signal equivalent to or even higher than those of endogenous collagen fibers. Several amyloid-like peptides (both synthetic and natural) were examined under SHG microscopy and shown they are SHG-active. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbio.201900065DOI Listing
December 2019
3 Reads
4.447 Impact Factor

Transforming growth factor beta-induced p.(L558P) variant is associated with autosomal dominant lattice corneal dystrophy type IV in a large cohort of Spanish patients.

Clin Exp Ophthalmol 2019 Sep 22;47(7):871-880. Epub 2019 May 22.

Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality, Institute of Health Carlos III, Madrid, Spain.

Importance: Rare transforming growth factor beta-induced (TGFBI) gene variants are involved in autosomal dominant corneal dystrophies (CDs) with heterogeneous clinical features.

Background: The purpose of this study was to analyse TGFBI gene variants and genotype-phenotype correlations in a cohort affected by atypical stromal CD.

Design: Retrospective cohort study (from May 2014 to September 2017). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ceo.13532DOI Listing
September 2019
4 Reads

Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty.

Acta Ophthalmol 2019 Nov 2;97(7):e987-e992. Epub 2019 May 2.

Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

Purpose: To describe the ocular findings of 12 subjects with paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS).

Methods: Ocular examination included corneal spectral domain optical coherence tomography. In three individuals with an initial diagnosis of a lattice or Thiel-Behnke corneal dystrophy, the TGFBI gene was screened by conventional Sanger sequencing. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/aos.14123DOI Listing
November 2019
8 Reads

Factors Affecting Formation of Type-1 and Type-2 Big Bubble during Deep Anterior Lamellar Keratoplasty.

Curr Eye Res 2019 07 25;44(7):701-706. Epub 2019 Apr 25.

a Cornea and Ocular Surface Diseases Department , Eye Hospital of Wenzhou Medical University, Wenzhou Medical University , Wenzhou , Zhejiang , China.

: To determine the factors associated with the formation of different types of big bubble (BB) during DALK. : In this retrospective study, 322 consecutive eyes of 307 patients with corneal stromal disorders who underwent DALK between January 2014 and June 2017 were included. Age, sex, corneal pathology, visual acuity, corneal curvature, corneal thickness, and adverse events were recorded. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/02713683.2019.1597889DOI Listing
July 2019
12 Reads

Impaired Autophagic Degradation of Transforming Growth Factor-β-Induced Protein by Macrophages in Lattice Corneal Dystrophy.

Invest Ophthalmol Vis Sci 2019 03;60(4):978-989

Hainan Provincial Key Laboratory of Tropical Medicine, Hainan Medical College, Haikou, China.

Purpose: Lattice corneal dystrophy (LCD) is related to the denaturation of transforming growth factor-β-induced protein (TGFBIp). Autophagic degradation of the denatured proteins by macrophages is one pathway to remove the denatured proteins. Thus, we investigated the role of autophagy in the degradation of mutant (MU) TGFBIp in macrophages. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.18-25838DOI Listing
March 2019
3 Reads

Trauma-induced exacerbation of epithelial-stromal TGFBI lattice corneal dystrophy.

Can J Ophthalmol 2019 02 21;54(1):e47-e49. Epub 2018 Jun 21.

Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00084182183031
Publisher Site
http://dx.doi.org/10.1016/j.jcjo.2018.05.001DOI Listing
February 2019
23 Reads

Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies.

Hum Mutat 2019 06 28;40(6):675-693. Epub 2019 Mar 28.

Institute for Research in Ophthalmology, Sion, Switzerland.

Human transforming growth factor β-induced (TGFBI), is a gene responsible for various corneal dystrophies. TGFBI produces a protein called TGFBI, which is involved in cell adhesion and serves as a recognition sequence for integrins. An alteration in cell surface interactions could be the underlying cause for the progressive accumulation of extracellular deposits in different layers of the cornea with the resulting changes of refractive index and transparency. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23737DOI Listing

Analysis of Gene Mutations in Three Chinese Families with Corneal Dystrophy.

J Ophthalmol 2019 22;2019:6769013. Epub 2019 Jan 22.

Department of Ophthalmology, Taizhou Municipal Hospital, Taizhou University, Taizhou, China.

Objective: To identify the types of (transforming growth factor, beta-induced) gene mutations in three Chinese families with Reis-Bücklers corneal dystrophy (RBCD), lattice corneal dystrophy type I (LCDI), or Avellino corneal dystrophy (ACD) and to investigate the relationship between the phenotypes and genotypes of corneal dystrophy.

Methods: Peripheral blood was collected from 24 patients and 76 phenotypically normal members in three Chinese families as well as from 100 healthy controls. Genomic DNA was extracted. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2019/6769013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362487PMC
January 2019
7 Reads

Lattice corneal dystrophy with familial amyloid polyneuropathy.

Int J Clin Pract 2019 06 25;73(6):e13320. Epub 2019 Feb 25.

Department of Ophthalmology, Osaka University Graduate School of Medicine, Osaka, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijcp.13320DOI Listing
June 2019
7 Reads

Characterization of neurite dystrophy after trauma by high speed structured illumination microscopy and lattice light sheet microscopy.

J Neurosci Methods 2019 01 6;312:154-161. Epub 2018 Dec 6.

Department of Neurosurgery, NorthShore University HealthSystem, Evanston, IL, USA. Electronic address:

Background: Unbiased screening studies have repeatedly identified actin-related proteins as one of the families of proteins most influenced by neurotrauma. Nevertheless, the status quo model of cytoskeletal reorganization after neurotrauma excludes actin and incorporates only changes in microtubules and intermediate filaments. Actin is excluded in part because it is difficult to image with conventional techniques. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jneumeth.2018.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6342006PMC
January 2019
9 Reads

Dystrophin As a Molecular Shock Absorber.

ACS Nano 2018 12 27;12(12):12140-12148. Epub 2018 Nov 27.

Department of Physics , National University of Singapore , Singapore 117551.

Dystrophin is the largest protein isoform (427 kDa) expressed from the gene defective in Duchenne muscular dystrophy, a lethal muscle-wasting and genetically inherited disease. Dystrophin, localized within a cytoplasmic lattice termed costameres, connects the intracellular cytoskeleton of a myofiber through the cell membrane (sarcolemma) to the surrounding extracellular matrix. In spite of its mechanical regulation roles in stabilizing the sarcolemma during muscle contraction, the underlying molecular mechanism is still elusive. Read More

View Article

Download full-text PDF

Source
http://pubs.acs.org/doi/10.1021/acsnano.8b05721
Publisher Site
http://dx.doi.org/10.1021/acsnano.8b05721DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6632074PMC
December 2018
4 Reads

Matrix-Assisted Laser Desorption Ionization Mass Spectrometry Imaging of Key Proteins in Corneal Samples from Lattice Dystrophy Patients with TGFBI-H626R and TGFBI-R124C Mutations.

Proteomics Clin Appl 2019 01 15;13(1):e1800053. Epub 2018 Nov 15.

11 Third Hospital Avenue, 168751, Singapore.

Scope: The purpose of this study is to identify and visualize the spatial distribution of proteins present in amyloid corneal deposits of TGFBI-CD patients using Mass Spectrometry Imaging (MSI) and compare it with healthy control cornea. Corneal Dystrophies (CD) constitute a group of genetically inherited protein aggregation disorders that affects different layers of the cornea. With accumulated protein deposition, the cornea becomes opaque with decreased visual acuity. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/prca.201800053
Publisher Site
http://dx.doi.org/10.1002/prca.201800053DOI Listing
January 2019
8 Reads

[Analysis of TGFBI gene mutation in a Chinese pedigree affected with lattice corneal dystrophy].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Aug;35(4):518-521

Center of Ophthalmology, Taizhou Municipal Hospital, Taizhou, Zhejiang 318000, China.

Objective: To explore the clinical features and mutation of TGFBI gene in a Chinese pedigree affected with lattice corneal dystrophy (LCD).

Methods: Genomic DNA was extracted from 35 members including 11 patients from the pedigree. The 17 exons and splicing region of introns of the TGFBI gene were amplified by PCR. Read More

View Article

Download full-text PDF

Source
http://doi.med.wanfangdata.com.cn/10.3760/cma.j.issn.1003-94
Publisher Site
http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.04.013DOI Listing
August 2018
48 Reads

Polymicrobial Keratitis With Cryptococcus curvatus, Candida parapsilosis, and Stenotrophomonas maltophilia After Penetrating Keratoplasty: A Rare Case Report With Literature Review.

Eye Contact Lens 2019 Mar;45(2):e5-e10

Sunderland Eye Infirmary (D.S.J.T., S.J.M., and S.G.), Sunderland, United Kingdom; Department of Microbiology (G.B. and R.K.), Sunderland Royal Hospital, Sunderland, United Kingdom; Histopathology Department (L.D.I.), Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom; and Mycology Reference Laboratory (E.J.), Public Health England South West Laboratory, Bristol, United Kingdom.

Objectives: To report the first case of fungal keratitis caused by Cryptococcus curvatus after penetrating keratoplasty (PK) in an immunocompetent patient and to describe its therapeutic challenge and long-term outcome.

Methods: An interventional case report.

Results: A 54-year-old female patient underwent right PK for lattice dystrophy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/ICL.0000000000000517DOI Listing
March 2019
21 Reads

Prevalence of stromal corneal dystrophies in Lahore.

J Pak Med Assoc 2018 Apr;68(4):663-665

Department of Biotechnology, Lahore College for Women University, Lahore.

To determine the prevalence of Stromal Corneal Dystrophies (SCDs) in patient from Lahore hospitals. The study was performed between November, 2014 to July 2015 at the Layton Rahmatullah Benevolent Trust Hospital, Mughal Hospital, Mayo Hospital and General Hospital, Lahore. For the clinical evaluation of SCD by ophthalmologists examination of cornea was done by biomicroscopy, specular microscopy, topography, keratometry, orbscan and far visual acuity. Read More

View Article

Download full-text PDF

Source
April 2018
8 Reads

Cataract surgery after deep anterior lamellar keratoplasty and penetrating keratoplasty in age- and disease-matched eyes.

J Cataract Refract Surg 2018 Apr 25;44(4):496-503. Epub 2018 Apr 25.

From the Departments of Ophthalmology, Tokyo Dental College Ichikawa General Hospital (Den, Shimazaki), Chiba, and Keio University School of Medicine (Shimmura, Shimazaki), Tokyo, Japan.

Purpose: To assess the efficacy and safety of cataract surgery after deep anterior lamellar keratoplasty (DALK) and penetrating keratoplasty (PKP).

Setting: Tokyo Dental College Ichikawa General Hospital, Chiba, Japan.

Design: Retrospective case series. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jcrs.2018.01.024DOI Listing
April 2018
5 Reads

Deep anterior lamellar keratoplasty or penetrating keratoplasty in lattice corneal dystrophy.

Authors:
Ritu Arora

Indian J Ophthalmol 2018 05;66(5):673-674

Department of Ophthalmology, Division of Cornea and Refractive Surgery, Guru Nanak Eye Centre, Maulana Azad Medical College, New Delhi, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/ijo.IJO_393_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5939161PMC
May 2018
5 Reads

Outcomes of keratoplasty in lattice corneal dystrophy in a large cohort of Indian eyes.

Indian J Ophthalmol 2018 05;66(5):666-672

Tej Kohli Cornea Institute, L V Prasad Eye Institute, Hyderabad, India.

Purpose: The purpose of this study is to evaluate the outcomes of keratoplasty for lattice corneal dystrophy (LCD) performed at a tertiary eye care center.

Methods: A retrospective review of medical records of those patients who were clinically diagnosed to have LCD (72 eyes of 57 patients) and underwent either penetrating keratoplasty (PK, 58 eyes of 46 patients) or deep anterior lamellar keratoplasty (DALK, 14 eyes of 13 patients) between the years 1987 and 2014 was performed. The main outcome measures included demographics, clinical features, and outcomes of keratoplasty. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/ijo.IJO_1150_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5939160PMC
May 2018
28 Reads
1 Citation
0.930 Impact Factor

[Limbokeratoplasty to Treat Lattice and Granular Corneal Dystrophies].

Klin Monbl Augenheilkd 2018 Jun 12;235(6):702-708. Epub 2018 Apr 12.

Klinik für Augenheilkunde, Universitätsklinikum Freiburg, Medizinische Fakultät, Albert-Ludwigs-Universität Freiburg, Deutschland.

The surgical technique of limbokeratoplasty (limbo-KP) was initially established for the treatment of severe limbal deficiencies. Besides improving visual acuity, surgery is aimed at ensuring complete, long-lasting epithelialization of the ocular surface. Due to the extension of the indication spectrum, limbo-KPs are also used in various forms of epithelial/stromal corneal dystrophies such as lattice and granular (transforming growth factor beta-induced [TGFBI] gene mutation associated) dystrophies. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/a-0584-7632DOI Listing
June 2018
6 Reads

The Gelsolin Pathogenic D187N Mutant Exhibits Altered Conformational Stability and Forms Amyloidogenic Oligomers.

Biochemistry 2018 04 11;57(16):2359-2372. Epub 2018 Apr 11.

Kusuma School of Biological Sciences , IIT Delhi , New Delhi 110016 , India.

Gelsolin is an actin-severing protein that attains an open functional conformation in the presence of Ca or low pH. Mutations (D187N/Y) in the second domain of gelsolin trigger the proteolytic pathway producing amyloidogenic fragments that form the pathological hallmark of gelsolin amyloidosis and lattice corneal dystrophy type 2 (LCD2). Here, we show that the D187N mutant gelsolin in a Ca depleted, low pH-activated, open conformation could assemble into amyloidogenic oligomers without necessarily undergoing the specific proteolytic step. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1021/acs.biochem.8b00039DOI Listing
April 2018
8 Reads

Variable rescue of microtubule and physiological phenotypes in mdx muscle expressing different miniaturized dystrophins.

Hum Mol Genet 2018 06;27(12):2090-2100

Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, MN 55455, USA.

Delivery of miniaturized dystrophin genes via adeno-associated viral vectors is one leading approach in development to treat Duchenne muscular dystrophy. Here we directly compared the functionality of five mini- and micro-dystrophins via skeletal muscle-specific transgenic expression in dystrophin-deficient mdx mice. We evaluated their ability to rescue defects in the microtubule network, passive stiffness and contractility of skeletal muscle. Read More

View Article

Download full-text PDF

Source
https://academic.oup.com/hmg/article/27/12/2090/4956189
Publisher Site
http://dx.doi.org/10.1093/hmg/ddy113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985723PMC
June 2018
13 Reads

Atypical Presentation of Gelsolin Amyloidosis in a Man of African Descent with a Novel Mutation in the Gelsolin Gene.

Am J Case Rep 2018 Mar 30;19:374-381. Epub 2018 Mar 30.

Division of Hematology/Oncology, Loma Linda University School of Medicine, Loma Linda, CA, USA.

BACKGROUND Gelsolin amyloidosis is a very rare systemic disease presenting with a pathognomonic triad of corneal lattice dystrophy, cutis laxa, and polyneuropathy. The disease is mostly restricted to a Finnish population with known mutations (G654A, G654T) in exon 4 of the gelsolin gene. The mutations lead to errors in protein processing and folding, and ultimately leads to deposition of an amyloidogenic fragment in the extracellular space, causing the symptoms of disease. Read More

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5890616PMC
http://dx.doi.org/10.12659/ajcr.907550DOI Listing
March 2018
18 Reads

Transplantation Blues: Inadvertent Staining of Amyloid Deposits With Trypan Blue.

Cornea 2018 Jul;37(7):824-828

Department of Ophthalmology, University Hospital, Saint-Etienne, France.

Purpose: To describe inadvertent persistent staining of stromal amyloid deposits by trypan blue (TB) after penetrating keratoplasty (PK) and Descemet membrane endothelial keratoplasty (DMEK) performed in patients with corneal amyloidosis.

Methods: Case series of patients with corneal amyloidosis in whom intraoperative TB was used.

Results: One patient, hospitalized for acute rejection 6 weeks after DMEK, presented with an intense blue staining of small, spindle-shaped structures in the anterior half of the cornea. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/ICO.0000000000001591DOI Listing
July 2018
18 Reads

Lamins and Lamin-Associated Proteins in Gastrointestinal Health and Disease.

Gastroenterology 2018 05 13;154(6):1602-1619.e1. Epub 2018 Mar 13.

Department of Molecular and Integrative Physiology, University of Michigan Medical School, Ann Arbor, Michigan; Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan; Åbo Akademi University, Turku, Finland.

The nuclear lamina is a multi-protein lattice composed of A- and B-type lamins and their associated proteins. This protein lattice associates with heterochromatin and integral inner nuclear membrane proteins, providing links among the genome, nucleoskeleton, and cytoskeleton. In the 1990s, mutations in EMD and LMNA were linked to Emery-Dreifuss muscular dystrophy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1053/j.gastro.2018.03.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6038707PMC
May 2018
8 Reads

Corneal Dystrophy Mutations Drive Pathogenesis by Targeting TGFBIp Stability and Solubility in a Latent Amyloid-forming Domain.

J Mol Biol 2018 04 7;430(8):1116-1140. Epub 2018 Mar 7.

Interdisciplinary Nanoscience Center (iNANO), Department of Molecular Biology, Aarhus University, 8000 Aarhus C, Denmark. Electronic address:

Numerous mutations in the corneal protein TGFBIp lead to opaque extracellular deposits and corneal dystrophies (CDs). Here we elucidate the molecular origins underlying TGFBIp's mutation-induced increase in aggregation propensity through comprehensive biophysical and bioinformatic analyses of mutations associated with every major subtype of TGFBIp-linked CDs including lattice corneal dystrophy (LCD) and three subtypes of granular corneal dystrophy (GCD 1-3). LCD mutations at buried positions in the C-terminal Fas1-4 domain lead to decreased stability. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jmb.2018.03.001DOI Listing
April 2018
16 Reads

Altered myofilament structure and function in dogs with Duchenne muscular dystrophy cardiomyopathy.

J Mol Cell Cardiol 2018 01 22;114:345-353. Epub 2017 Dec 22.

INSERM U1046, CNRS UMR 9214, Université de Montpellier, Physiologie et Médecine Expérimentale du cœur et des muscles - PHYMEDEXP, CHU Arnaud de Villeneuve, 34295 Montpellier cedex 05, France.. Electronic address:

Aim: Duchenne Muscular Dystrophy (DMD) is associated with progressive depressed left ventricular (LV) function. However, DMD effects on myofilament structure and function are poorly understood. Golden Retriever Muscular Dystrophy (GRMD) is a dog model of DMD recapitulating the human form of DMD. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yjmcc.2017.12.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800996PMC
January 2018
17 Reads
4.660 Impact Factor

Prevalence of transforming growth factor β-induced gene corneal dystrophies in Chinese refractive surgery candidates.

J Cataract Refract Surg 2017 12 9;43(12):1489-1494. Epub 2017 Dec 9.

From the Beijing Tongren Eye Center (Song, Sun, N. Wang, Zhang), Beijing Tongren Hospital, Capital Medical University and Beijing Ophthalmology & Visual Sciences Key Laboratory, the Peking University Third Hospital (Y. Chen), Beijing, Key Laboratory of Myopia, Ministry of Health, Department of Ophthalmology (Zhou, Zhao), the Eye and ENT Hospital of Fudan University, Shanghai, the Eye Hospital of Wenzhou Medical University (Q. Wang, S. Chen), Wenzhou, the West China Hospital of Sichuan University (Deng, Qiu), Chengdu, China; the Stein Eye Institute (Aldave), University of California Los Angeles Medical Center, Los Angeles, California, USA. Electronic address:

Purpose: To determine the prevalence of the transforming growth factor (TGF) β-induced gene corneal dystrophies in refractive surgery candidates in China.

Setting: Five hospitals in China.

Design: Prospective case series. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jcrs.2017.07.038DOI Listing
December 2017
28 Reads

Transforming growth factor β induced mutation-associated phenotype in a Chinese family exhibiting lattice corneal dystrophy.

Biomed Rep 2017 Oct 30;7(4):314-318. Epub 2017 Aug 30.

Sichuan Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.

Lattice corneal dystrophy type I (LCDI) is associated with a large number of missense mutations in the transforming growth factor β induced () gene. The aim of the present study was to analyze mutation in a Chinese family with LCDI, and to describe the clinical features and phenotype-genotype correlation within this family. Three generations of this family with LCDI were enrolled in the current study. Read More

View Article

Download full-text PDF

Source
https://www.spandidos-publications.com/10.3892/br.2017.975
Publisher Site
http://dx.doi.org/10.3892/br.2017.975DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5649572PMC
October 2017
29 Reads

Unilateral lattice corneal dystrophy in a young female: A unique case report.

Nepal J Ophthalmol 2017 01;9(18):66-69

Background: Unilateral lattice corneal dystrophy is a rare entity.

Objective: To highlight the evidence of unilateral lattice corneal dystrophy in a young female.

Case: A young 28 years old female presented to the outpatient department of Ophthalmology with slowly progressive diminution of vision in left eye for one month. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3126/nepjoph.v9i1.17537DOI Listing
January 2017
6 Reads

The First Argentinian Family with Familial Amyloidosis of the Finnish Type.

Case Rep Ophthalmol 2017 May-Aug;8(2):446-451. Epub 2017 Aug 31.

Department of Ophthalmology, Hospital de Clínicas José de San Martin, Universidad de Buenos Aires (UBA), Buenos Aires, Argentina.

Familial amyloidosis of the Finnish type or Meretoja syndrome is a rare autosomic dominant inherited systemic condition. It was first described by Meretoja in Finland in 1969. It is a disease produced by a single mutation in the gene coding for gelsolin, which generates an abnormal protein that cumulates in tissues and leads to various signs. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000479729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5597921PMC
August 2017
7 Reads

CaF nanoparticles as surface carriers of GCAP1, a calcium sensor protein involved in retinal dystrophies.

Nanoscale 2017 Aug;9(32):11773-11784

Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, Verona, Italy.

CaF-based nanoparticles (NP) are promising biocompatible tools for nanomedicine applications. The structure of the NP crystal lattice allows for specific interactions with Ca-binding proteins through their EF-hand cation binding motifs. Here we investigated the interaction of 23 nm citrate-coated CaF NP with a calcium sensor protein GCAP1 that is normally expressed in photoreceptor cells and involved in the regulation of the early steps of vision. Read More

View Article

Download full-text PDF

Source
http://xlink.rsc.org/?DOI=C7NR03288A
Publisher Site
http://dx.doi.org/10.1039/c7nr03288aDOI Listing
August 2017
7 Reads

The Changing Face of Aging: Highly Sulfated Glycosaminoglycans Induce Amyloid Formation in a Lattice Corneal Dystrophy Model Protein.

J Mol Biol 2017 09 21;429(18):2755-2764. Epub 2017 Jul 21.

Interdisciplinary Nanoscience Center (iNANO) and Center for Insoluble Protein Structures (inSPIN), Aarhus University, Gustav Wieds Vej 14, DK-8000 Aarhus C, Denmark; Department of Molecular Biology and Genetics, Aarhus University, Gustav Wieds Vej 10C, DK-8000 Aarhus C, Denmark. Electronic address:

Glycosaminoglycans (GAGs) are related to multiple biological functions and diseases. There is growing evidence that GAG concentration and sulfate content increase with age. The destabilizing mutation A546T in the corneal protein TGFBIp leads to lattice-type corneal dystrophy, but symptoms only appear in the fourth decade of life. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jmb.2017.07.014DOI Listing
September 2017
21 Reads

Proteomic Analysis of Amyloid Corneal Aggregates from TGFBI-H626R Lattice Corneal Dystrophy Patient Implicates Serine-Protease HTRA1 in Mutation-Specific Pathogenesis of TGFBIp.

J Proteome Res 2017 08 20;16(8):2899-2913. Epub 2017 Jul 20.

Singapore Eye Research Institute , 11 Third Hospital Avenue, Singapore 168751.

TGFBI-associated corneal dystrophies are inherited disorders caused by TGFBI gene variants that promote deposition of mutant protein (TGFBIp) as insoluble aggregates in the cornea. Depending on the type and position of amino acid substitution, the aggregates may be amyloid fibrillar, amorphous globular or both, but the molecular mechanisms that drive these different patterns of aggregation are not fully understood. In the current study, we report the protein composition of amyloid corneal aggregates from lattice corneal dystrophy patients of Asian origin with H626R and R124C mutation and compared it with healthy corneal tissues via LC-MS/MS. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1021/acs.jproteome.7b00188DOI Listing
August 2017
30 Reads

Long-term clinical outcome of femtosecond laser-assisted lamellar keratectomy with phototherapeutic keratectomy in anterior corneal stromal dystrophy.

Br J Ophthalmol 2018 01 13;102(1):31-36. Epub 2017 Jun 13.

Department of Ophthalmology, ChungAng University Hospital, Seoul, South Korea.

Purpose: To evaluate long-term outcome of femtosecond laser-assisted lamellar keratectomy (FLK) with phototherapeutic keratectomy (PTK) in patients with anterior corneal stromal dystrophies.

Methods: A total of 10 eyes from seven patients who underwent FLK were included. The patients had suffered from recurrent corneal erosion or visual disturbance in anterior corneal dystrophies (five Avellino dystrophies and two lattice dystrophies). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bjophthalmol-2017-310189DOI Listing
January 2018
46 Reads

Two mutations in the transforming growth factor beta-induced gene associated with familial Lattice corneal dystrophy.

Int J Ophthalmol 2017 18;10(3):343-347. Epub 2017 Mar 18.

Eye Hospital, the First Affiliated Hospital, Harbin Medical University, Harbin 150001, Heilongjiang Province, China.

Aim: To report a phenotypic variant pedigree of lattice corneal dystrophy (LCD) associated with two mutations, R124C and A546D, in the transforming growth factor beta-induced gene (TGFBI).

Methods: A detailed ocular examination was taken for all participants of a LCD family. Peripheral blood leukocytes from each participant were extracted to obtain the DNA. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.18240/ijo.2017.03.03DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5360766PMC
March 2017
8 Reads

Effect of position-specific single-point mutations and biophysical characterization of amyloidogenic peptide fragments identified from lattice corneal dystrophy patients.

Biochem J 2017 05 9;474(10):1705-1725. Epub 2017 May 9.

Singapore Eye Research Institute, The Academia, 20 College Road, Discovery Tower, Singapore

Corneal stromal dystrophies are a group of genetic disorders that may be caused by mutations in the transforming growth factor β-induced () gene which results in the aggregation and deposition of mutant proteins in various layers of the cornea. The type of amino acid substitution dictates the age of onset, anatomical location of the deposits, morphological features of deposits (amyloid, amorphous powder or a mixture of both forms) and the severity of disease presentation. It has been suggested that abnormal turnover and aberrant proteolytic processing of the mutant proteins result in the accumulation of insoluble protein deposits. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1042/BCJ20170125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5632800PMC
May 2017
39 Reads

TGFBI gene mutations analysis in Chinese families with corneal dystrophies.

Mol Med Rep 2017 May 30;15(5):3198-3202. Epub 2017 Mar 30.

Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin 300020, P.R. China.

The aim of the present study was to examine the clinical features of three Chinese families with autosomal dominant corneal dystrophy (CD) and examine transforming growth factor‑β‑induced (TGFBI) gene mutations in these families. The TGFBI gene mutations were detected using direct sequencing of the whole coding regions and exon-intron boundaries of the TGFBI gene in the affected members from the three families with CD. The phenotypes of all affected individuals in the three families were observed via slit lamp examination. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3892/mmr.2017.6414DOI Listing
May 2017
19 Reads