2,045 results match your criteria clinically indistinguishable


Cerebral Visual Impairment Characterized by Abnormal Visual Orienting Behavior With Preserved Visual Cortical Activation.

Invest Ophthalmol Vis Sci 2021 May;62(6):15

University of Washington, Department of Ophthalmology, Seattle, Washington, United States.

Purpose: Children with cerebral visual impairment (CVI) often have abnormal visual orienting behaviors due to impaired or damaged visual cortex. Alternatively, visual-cortical function is intact but visual information is not transformed downstream into an appropriate oculomotor output (visuomotor dysfunction). We examined visual, anatomic, and oculomotor assessments to distinguish visuomotor dysfunction from CVI associated with severely reduced visual-cortical response. Read More

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The Role of Cell Adhesion and Cytoskeleton Dynamics in the Pathogenesis of the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders.

Front Cell Dev Biol 2021 21;9:649082. Epub 2021 Apr 21.

Division of Biomedical Sciences, Centre for Mechanochemical Cell Biology, Warwick Medical School, University of Warwick, Coventry, United Kingdom.

The Ehlers-Danlos syndromes (EDS) are a group of 13 disorders, clinically defined through features of joint hypermobility, skin hyperextensibility, and tissue fragility. Most subtypes are caused by mutations in genes affecting the structure or processing of the extracellular matrix (ECM) protein collagen. The Hypermobility Spectrum Disorders (HSDs) are clinically indistinguishable disorders, but are considered to lack a genetic basis. Read More

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Torsion of cecal appendix. Report of the first Italian case and review of the literature.

Pediatr Med Chir 2021 May 7;43(1). Epub 2021 May 7.

Department of Pediatric Surgery and Pediatric Minimally Invasive Surgery and New Technologies, San Bortolo Hospital, Vicenza.

In pediatric patients appendicitis is the most common cause of abdominal pain and surgery. Torsion of vermiform appendix is a rare cause, clinically indistinguishable from appendicitis with usually an intraoperative diagnosis. The first description of vermiform appendix torsion was made by Payne in 1918. Read More

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Streptococcus suis serotyping by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.

PLoS One 2021 4;16(5):e0249682. Epub 2021 May 4.

Department of Veterinary Public Health, Faculty of Veterinary Sciences, Chulalongkorn University, Bangkok, Thailand.

Streptococcus suis, particularly S. suis serotype 2 (SS2), is an important zoonotic pathogen causing meningitis in humans worldwide. Although the proper classification of the causative and pathogenic serotype is salutary for the clinical diagnosis, cross-reactions leading to the indistinguishability of serotypes by the current serotyping methods are significant limitations. Read More

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Overlap of immunotherapy-related pneumonitis and COVID-19 pneumonia: diagnostic and vaccine considerations.

J Immunother Cancer 2021 04;9(4)

Divisions of Hematology/Oncology & Infectious Diseases, Department of Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin, USA

The clinically indistinguishable overlap between pneumonitis caused due to immune checkpoint inhibition (ICI) and pneumonia associated with COVID-19 has posed considerable challenges for patients with cancer and oncologists alike. The cancer community continues to face the challenges that lay at the complex immunological intersection of immune-based cancer therapy and immune dysregulation that results from COVID-19. Is there compounded immune dysregulation that could lead to poor outcomes? Could ICIs, in fact, ameliorate SARS-CoV-2-driven T-cell exhaustion?A little more is known about the kinetics of the viral replication in immunocompromised patients now as compared with earlier during the pandemic. Read More

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Longitudinal changes in psychological distress in the UK from 2019 to September 2020 during the COVID-19 pandemic: Evidence from a large nationally representative study.

Psychiatry Res 2021 Apr 2;300:113920. Epub 2021 Apr 2.

Institute of Population Health Sciences, University of Liverpool, Liverpool, United Kingdom. Electronic address:

In a large (n=10918), national, longitudinal probability-based sample of UK adults the prevalence of clinically significant psychological distress rose from prepandemic levels of 20.8% in 2019 to 29.5% in April 2020 and then declined significantly to prepandemic levels by September (20. Read More

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Clinical and Prognostic Value of Immunogenetic Characteristics in Anti-LGI1 Encephalitis.

Neurol Neuroimmunol Neuroinflamm 2021 05 5;8(3). Epub 2021 Mar 5.

From the French Reference Center on Paraneoplastic Neurological Syndromes and Autoimmune Encephalitis (S.M.-C., L.T., A.V., A.-L.P., G.P., C.B., L.-D.D., B.J., V.R., J. Honnorat), Hospices Civils de Lyon, Hôpital Neurologique, Bron, France; SynatAc Team (S.M.-C., L.T., A.V., A.-L.P., G.P., C.B., L.-D.D., B.J., V.R., J. Honnorat), Institut NeuroMyoGène, INSERM U1217/CNRS UMR 5310, Université de Lyon, Université Claude Bernard Lyon 1, France; Clinic Research and Epidemiology Department (J. Haesebaert), Hospices Civils de Lyon, Lyon, France, HESPER Team, EA 7425, Medicine School, Université Claude Bernard Lyon 1, France; Neurology Department 2-Mazarin (G.B., D.P., A. Alentorn), Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, APHP; Brain and Spinal Cord Institute (G.B., D.P., A. Alentorn), INSERM U1127/CNRS UMR 7255, Université Pierre-et-Marie-Curie, Universités Sorbonnes, Paris, France; HLA Laboratory (V.D.), French Blood Service, EFS Auvergne-Rhône-Alpes, Lyon, France; Stanford University Center for Sleep Sciences and Medicine (A. Ambati, E.M.), Palo Alto, CA; and Department of Psychiatry (R.T.), Hôpitaux Universitaires Henri Mondor, Créteil, France, Mondor Institute for Biomedical Research, INSERM U955, Université de Paris-Est-Créteil, France.

Objective: Antibodies against leucine-rich glioma-inactivated 1 (LGI1-Abs) characterize a limbic encephalitis (LE) strongly associated with HLA-DRB1*07:01, although some patients lack LGI1-Abs in CSF or do not carry this allele. Whether they represent a different subtype of disease or have different prognoses is unclear.

Methods: Retrospective analysis of clinical features, IgG isotypes, and outcome according to LGI1-Ab CSF positivity and DRB1*07:01 in a cohort of anti-LGI1 LE patients. Read More

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Development of multiplex real-time PCR assays for differential detection of capripoxvirus, parapoxvirus and foot-and-mouth disease virus.

Transbound Emerg Dis 2021 Apr 10. Epub 2021 Apr 10.

Foreign Animal Disease Diagnostic Laboratory, NVSL, APHIS, USDA, Plum Island Animal Disease Center, Orient, NY, USA.

This study reports the development of multiplex real-time PCR assays for differential detection of capripoxvirus (CaPV), parapoxvirus (PaPV) and foot-and-mouth disease virus (FMDV) in sheep, goats and cattle. Three multiplex assays were developed, a capripox (CaP) rule-out assay for simultaneous detection and differentiation of CaPV and PaPV, a FMD rule-out assay for simultaneous detection and differentiation of FMDV and PaPV, and a FMD/CaP rule-out assay for simultaneous detection and differentiation of CaPV, PaPV and FMDV. All multiplex assays included β-actin gene ACTB as an internal positive control to monitor PCR inhibition and accuracy of nucleic acid extractions. Read More

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The intervention, the patient and the illness - Personalizing non-invasive brain stimulation in psychiatry.

Exp Neurol 2021 Mar 31;341:113713. Epub 2021 Mar 31.

Laboratory of Neurosciences (LIM-27), Instituto Nacional de Biomarcadores em Neuropsiquiatria (INBioN), Department and Institute of Psychiatry, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil; Department of Internal Medicine, Faculdade de Medicina da Universidade de São Paulo & Hospital Universitário, Universidade de São Paulo, Av. Prof Lineu Prestes 2565, 05508-000 São Paulo, Brazil.

Current hypotheses on the therapeutic action of non-invasive brain stimulation (NIBS) in psychiatric disorders build on the abundant data from neuroimaging studies. This makes NIBS a very promising tool for developing personalized interventions within a precision medicine framework. NIBS methods fundamentally vary in their neurophysiological properties. Read More

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(TAZ)- gene fusion is sufficient to dysregulate YAP/TAZ signaling and drive epithelioid hemangioendothelioma tumorigenesis.

Genes Dev 2021 Apr 25;35(7-8):512-527. Epub 2021 Mar 25.

Department of Cancer Biology, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA.

Epithelioid hemangioendothelioma (EHE) is a genetically homogenous vascular sarcoma that is a paradigm for TAZ dysregulation in cancer. EHE harbors a (TAZ)- gene fusion in >90% of cases, 45% of which have no other genetic alterations. In this study, we used a first of its kind approach to target the gene fusion to the locus, to develop a conditional EHE mouse model whereby is controlled by the endogenous transcriptional regulators upon Cre activation. Read More

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Providing an Evidence Base for Tissue Sampling and Culture Interpretation in Suspected Fracture-Related Infection.

J Bone Joint Surg Am 2021 Mar 25. Epub 2021 Mar 25.

Bone Infection Unit, Nuffield Orthopaedic Centre, Oxford University Hospitals, Oxford, United Kingdom.

Background: The recent consensus definition for the diagnosis of fracture-related infection (FRI) includes the identification of indistinguishable microorganisms in at least 2 surgical deep-tissue specimens as a confirmatory criterion. However, this cut-off, and the total number of specimens from a patient with suspected FRI that should be sent for microbiological testing, have not been validated. We endeavored to estimate the accuracy of different numbers of specimens and diagnostic cut-offs for microbiological testing of deep-tissue specimens in patients undergoing surgical treatment for possible FRI. Read More

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Implementation of CRISPR/Cas9 Genome Editing to Generate Murine Lung Cancer Models That Depict the Mutational Landscape of Human Disease.

Front Cell Dev Biol 2021 2;9:641618. Epub 2021 Mar 2.

Deregulated Protein Stability and Cancer Laboratory, Lehrstuhl für Biochemie und Molekularbiologie, Biozentrum, Universität Würzburg, Würzburg, Germany.

Lung cancer is the most common cancer worldwide and the leading cause of cancer-related deaths in both men and women. Despite the development of novel therapeutic interventions, the 5-year survival rate for non-small cell lung cancer (NSCLC) patients remains low, demonstrating the necessity for novel treatments. One strategy to improve translational research is the development of surrogate models reflecting somatic mutations identified in lung cancer patients as these impact treatment responses. Read More

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Genomic Insights Into the Pathogenicity of a Novel Biofilm-Forming sp. Bacteria () Identified in Reptiles.

Front Microbiol 2021 2;12:635208. Epub 2021 Mar 2.

Centre for Virus Research, The Westmead Institute for Medical Research, Westmead, NSW, Australia.

Whole genome analysis of a novel species of enterococci, , causing multi-systemic and invariably fatal disease in critically endangered Christmas Island reptiles was undertaken to determine the genetic elements and potential mechanisms conferring its pathogenic nature, biofilm-forming capabilities, immune recognition avoidance, and inability to grow Comparative genomic analyses with related and clinically significant enterococci were further undertaken to infer the evolutionary history of the bacterium and identify genes both novel and absent. The genome had a G + C content of 35.1%, consisted of a circular chromosome, no plasmids, and was 2,419,934 bp in length (2,321 genes, 47 tRNAs, and 13 rRNAs). Read More

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Porcine Coronaviruses: Overview of the State of the Art.

Virol Sin 2021 Mar 15. Epub 2021 Mar 15.

Department of Preclinical Sciences and Infectious Diseases, Faculty of Veterinary Medicine and Animal Sciences, Poznan University of Life Sciences, ul. Wołyńska 35, 60-637, Poznan, Poland.

Like RNA viruses in general, coronaviruses (CoV) exhibit high mutation rates which, in combination with their strong tendency to recombine, enable them to overcome the host species barrier and adapt to new hosts. It is currently known that six CoV are able to infect pigs. Four of them belong to the genus Alphacoronavirus [transmissible gastroenteritis coronavirus (TEGV), porcine respiratory coronavirus (PRCV), porcine epidemic diarrhea virus (PEDV), swine acute diarrhea syndrome coronavirus (SADS-CoV)], one of them to the genus Betacoronavirus [porcine hemagglutinating encephalomyelitis virus (PHEV)] and the last one to the genus Deltacoronavirus (PDCoV). Read More

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[Silica-induced scleroderma in miners in former uranium ore mining (Wismut AG)].

Hautarzt 2021 Mar 15. Epub 2021 Mar 15.

Klinik und Poliklinik für Dermatologie, Venerologie und Allergologie, Universitätsklinikum Leipzig, Philipp-Rosenthal-Str. 23, 04103, Leipzig, Deutschland.

As part of the reappraisal of the legacy of Wismut AG, 12 patients with silica-induced scleroderma among underground uranium ore mine workers (Wismut AG) under long-term exposure to silica fine dust, as well as radon and its daughter products, during the 1960s and 1970s are reported on. Silica-induced scleroderma is clinically, serologically and immunologically indistinguishable from idiopathic systemic sclerosis. In experimental studies, endothelial cells, monocytes and fibroblasts, as well as their synthesis rates and the release of cytokines and chemokines, were activated by silica fine dust in a way that is consistent with the pathophysiological processes in idiopathic systemic sclerosis. Read More

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Hepatocellular carcinoma with regional lymphadenopathy caused by sarcoid-like reaction: a case report.

Surg Case Rep 2021 Mar 4;7(1):63. Epub 2021 Mar 4.

Department of Gastroenterological Surgery II, Hokkaido University Graduate School of Medicine, Kita 15 Nishi 7, Kita-ku, Sapporo, Hokkaido, 060-8638, Japan.

Background: Sarcoid-like reaction (SLR) is a histological pattern of granulomatous inflammation that is clinically differentiated from sarcoidosis. Since SLR is known to occur in several neoplasias and occasionally causes lymphadenopathy and mimics metastatic malignancy, it needs to be considered whether lymphadenopathy is due to metastasis or SLR for the choice of cancer treatment. Few cases of hepatocellular carcinoma (HCC) with SLR have been reported. Read More

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The diagnostic challenge of pneumocystis pneumonia and COVID-19 co-infection in HIV.

Respirol Case Rep 2021 Apr 22;9(4):e00725. Epub 2021 Feb 22.

Division of Pulmonology, Department of Medicine, Faculty of Medicine and Health Sciences Stellenbosch University and Tygerberg Hospital Cape Town South Africa.

Coronavirus disease 2019 (COVID-19) and pneumocystis pneumonia (PCP) share many overlapping features and may be clinically indistinguishable on initial presentation in people living with HIV. We present the case of co-infection with COVID-19 and PCP in a patient with progressive respiratory failure admitted to our intensive care unit where the dominant disease was uncertain. This case highlights the difficulty in differentiating between the two diseases, especially in a high HIV prevalence setting where PCP is frequently diagnosed using case definitions and clinical experience due to limited access to bronchoscopy, appropriate laboratory testing, and computed tomography scans. Read More

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LRRK2; a dynamic regulator of cellular trafficking.

Brain Res 2021 Mar 2;1761:147394. Epub 2021 Mar 2.

Laboratory of Neurogenetics and Neuroscience, Department of Neurology, University of Florida, Gainesville, FL, USA.

Parkinson's disease (PD) represents the second most common neurodegenerative disorder, characterized clinically by bradykinesia, resting tremor, rigidity and postural instability, and a variety of non-motor features. The etiology of PD is unknown, however genetic, environmental and inflammatory factors may influence disease onset and progression. Genetic variability in leucine-rich repeat kinase 2 confers significant genotypic and population-attributable risk for LRRK2-parkinsonism that is clinically indistinguishable from idiopathic PD. Read More

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Adalimumab-induced sarcoidosis-like reaction involving oral cavity in rheumatoid arthritis: a case-based review.

Clin Rheumatol 2021 Feb 24. Epub 2021 Feb 24.

Oral Diagnosis Department, Semiology and Pathology Areas, Piracicaba Dental School, University of Campinas, Piracicaba, São Paulo, Brazil.

Drug-induced sarcoidosis-like reaction (DISR) is a condition almost indistinguishable from sarcoidosis, both clinically and microscopically, consisting of granulomatous tissue reaction associated with a specific therapy. Commonly affected sites are the lungs, hilar lymph nodes, and skin. This report aimed to describe a very uncommon case of DISR with an unique involvement of the oral cavity. Read More

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February 2021

Multidisciplinary Recommendations Regarding Post-Vaccine Adenopathy and Radiologic Imaging: Scientific Expert Panel.

Radiology 2021 Feb 24:210436. Epub 2021 Feb 24.

From Department of Radiology, Memorial Sloan Kettering Cancer Center, New York NY (A.S.B., R.P-J., M.E.H., K.N.F., K.M.G., A.T.L., R.Y., M.E.M., H.H., H.A.V.); Department of Radiology, Brigham and Women's Hospital, Boston MA (S.A.C., A.B.S.); Department of Imaging, Dana-Farber Cancer Institute, Boston MA (S.A.C., A.B.S.); Division of Diagnostic Imaging, MD Anderson Cancer Center, Houston TX (M.M.C., M.H.); Department of Head and Neck Surgery, MD Anderson Cancer Center, Houston TX (E.Y.H.); Department of Medical Oncology, Dana-Farber Cancer Institute, Boston MA (E.L.M.).

Vaccination-associated adenopathy is a frequent imaging finding after administration of COVID-19 vaccines that may lead to a diagnostic conundrum in patients with manifest or suspected cancer, in whom it may be indistinguishable from malignant nodal involvement. To help the medical community address this concern in the absence of studies and evidence-based guidelines, this paper offers recommendations developed by a multidisciplinary panel of experts from three of the leading tertiary care cancer centers in the United States. According to these recommendations, some routine imaging examinations, such as those for screening, should be scheduled before or at least 6 weeks after the final vaccination dose to allow for any reactive adenopathy to resolve. Read More

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February 2021

Pilomatricoma on F-fluorodeoxyglucose positron emission tomography-computed tomography: Peripheral mimic of an aggressive soft-tissue malignancy.

World J Nucl Med 2020 Oct-Dec;19(4):452-454. Epub 2020 Oct 27.

Wales Research and Diagnostic PET Imaging Centre, University of Cardiff, Oxford, United Kingdom.

Pilomatricoma, also known as calcifying epithelioma of Malherbe, is a rare skin tumor originating from the hair follicle matrix. We report a case of pilomatricoma in a 50-year-old woman, presenting as a rapidly growing pretibial mass. Malignant pilomatricoma is associated with potentially fatal metastases and are clinically and histologically indistinguishable from benign pilomatricoma. Read More

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October 2020

A Long-Acting Thermoresponsive Injectable Formulation of Tin Protoporphyrin Sustains Antitubercular Efficacy in a Murine Infection Model.

ACS Pharmacol Transl Sci 2021 Feb 18;4(1):276-287. Epub 2020 Dec 18.

Immunobiology Section, Laboratory of Parasitic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, US Department of Health and Human Services, Bethesda, Maryland 20892, United States.

Tuberculosis is the leading cause of death from a single infectious agent, ranking above the human immunodeficiency virus (HIV). Effective treatment using antibiotics is achievable, but poor patient compliance constitutes a major challenge impeding successful pharmacotherapeutic outcomes. This is often due to the prolonged treatment periods required and contributes significantly to the rising incidence of drug resistance, which is a major cause of tuberculosis mortality. Read More

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February 2021

Proof of Concept for an "eyePhone" App to Measure Video Head Impulses.

Digit Biomark 2021 Jan-Apr;5(1):1-8. Epub 2020 Dec 30.

Division of Neuro-Visual and Vestibular Disorders, Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Objective: Differentiating benign from dangerous causes of dizziness or vertigo presents a major diagnostic challenge for many clinicians. Bedside presentations of peripheral vestibular disorders and posterior fossa strokes are often indistinguishable other than by a few subtle vestibular eye movements. The most challenging of these to interpret is the head impulse test (HIT) of vestibulo-ocular reflex (VOR) function. Read More

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December 2020

No laughing matter - Myeloneuropathy due to heavy chronic nitrous oxide abuse.

Am J Emerg Med 2021 Jan 30. Epub 2021 Jan 30.

Spectrum Health, 100 Michigan St SE, Grand Rapids, MI 49503, United States of America.

Chronic nitrous oxide abuse is a known cause of myeloneuropathy. Nitrous oxide irreversibly inactivates vitamin B12 causing demyelination of the dorsal spinal columns, clinically indistinguishable from that which is caused by vitamin B12 deficiency. We report a 37-year-old female who presented with ataxia, loss of lower extremity proprioception, demyelination of her cervical dorsal spinal columns, and other laboratory and physical exam findings consistent with nitrous oxide abuse. Read More

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January 2021

Angioedema without wheals: a clinical update.

Authors:
Okan Gülbahar

Balkan Med J 2021 Mar;38(2):73-81

Division of Immunology-Allergy, Department of Internal Medicine, Ege University School of Medicine, İzmir, Turkey.

Angioedema without wheals (urticaria) represents a heterogeneous group of clinically indistinguishable diseases of hereditary or acquired etiology. Hereditary angioedema is a rare inherited condition leading to recurrent, sometimes life-threatening angioedema attacks in subcutaneous tissues and gastrointestinal and oropharyngeal mucosa dating back to childhood or adolescence. Most of these patients have mutations in the SERPING1 gene, causing either low C1 inhibitor production (hereditary angioedema with C1 inhibitor deficiency type I) or the production of dysfunctional C1 inhibitor (hereditary angioedema with C1 inhibitor deficiency type II). Read More

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Clinical significance of E148Q heterozygous variant in paediatric Familial Mediterranean Fever.

Rheumatology (Oxford) 2021 Feb 9. Epub 2021 Feb 9.

Paediatric Rheumatology unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Centre r, Tel Hashomer.

Objectives: Familial Mediterranean Fever (FMF) results from mutations in the Mediterranean fever (MEFV) gene. The p.E148Q is one of the most frequent protein alternations in the MEFV gene, yet the exact E148Q genotype-phenotype correlation remains unclear. Read More

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February 2021

Neuropathology of COVID-19 (neuro-COVID): clinicopathological update.

Free Neuropathol 2021 Jan;2

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, USA.

Coronavirus disease 2019 (COVID-19) is emerging as the greatest public health crisis in the early 21century. Its causative agent, Severe Acute Respiratory Syndrome coronavirus 2 (SARS-CoV-2), is an enveloped single stranded positive-sense ribonucleic acid virus that enters cells via the angiotensin converting enzyme 2 receptor or several other receptors. While COVID-19 primarily affects the respiratory system, other organs including the brain can be involved. Read More

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January 2021

Coinfection of porcine deltacoronavirus and porcine epidemic diarrhea virus increases disease severity, cell trophism and earlier upregulation of IFN-α and IL12.

Sci Rep 2021 Feb 4;11(1):3040. Epub 2021 Feb 4.

Department of Veterinary Microbiology, Faculty of Veterinary Science, Chulalongkorn University, Henry Dunant Road, Pathumwan, Bangkok, 10330, Thailand.

Porcine epidemic diarrhea virus (PEDV) and porcine deltacoronavirus (PDCoV) cause an enteric disease characterized by diarrhea clinically indistinguishable. Both viruses are simultaneously detected in clinical cases, but a study involving the co-infection has not been reported. The study was therefore conducted to investigate the disease severity following a co-infection with PEDV and PDCoV. Read More

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February 2021

Clinically-identified C-terminal mutations in fibulin-3 are prone to misfolding and destabilization.

Sci Rep 2021 Feb 4;11(1):2998. Epub 2021 Feb 4.

Department of Ophthalmology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, USA.

Distinct mutations in the secreted extracellular matrix protein, fibulin-3 (F3), have been associated with a number of ocular diseases ranging from primary open angle glaucoma to cuticular age-related macular degeneration to a rare macular dystrophy, Malattia Leventinese (ML). The R345W F3 mutation that causes ML leads to F3 misfolding, inefficient secretion and accumulation at higher intracellular steady state levels in cultured cells. Herein, we determined whether fifteen other clinically-identified F3 mutations also led to similar levels of misfolding and secretion defects, which might provide insight into their potential pathogenicity. Read More

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February 2021

The Cell Biology of LRRK2 in Parkinson's Disease.

Mol Cell Biol 2021 04 22;41(5). Epub 2021 Apr 22.

Department of Pathology, University of California, San Diego, San Diego, California, USA

Point mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common cause of familial Parkinson's disease (PD) and are implicated in a significant proportion of apparently sporadic PD cases. Clinically, LRRK2-driven PD is indistinguishable from sporadic PD, making it an attractive genetic model for the much more common sporadic PD. In this review, we highlight recent advances in understanding LRRK2's subcellular functions using LRRK2-driven PD models, while also considering some of the limitations of these model systems. Read More

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