Anthony Antonellis

Anthony Antonellis

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Anthony Antonellis

Anthony Antonellis

Publications by authors named "Anthony Antonellis"

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Genetic approaches to the treatment of inherited neuromuscular diseases.

Hum Mol Genet 2019 Jun 22. Epub 2019 Jun 22.

Department of Pathology, University of Michigan Medical School, Ann Arbor, MI 48109.

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http://dx.doi.org/10.1093/hmg/ddz131DOI Listing
June 2019

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.

Neurol Genet 2019 Apr 18;5(2):e565. Epub 2019 Apr 18.

Department of Neurology (C.S., J.S., C.Z., J. Lu, J.X., S. Luo, J. Lin), Huashan Hospital, Fudan University, Shanghai, China; Baylor Genetic Laboratories (Y.J., Z.N., M.L.L., M.W., R.E.P., H.M., Y.Y.), Houston, TX; Department of Radiology (Y.L.), Huashan Hospital, Fudan University; Department of Pathology (Y.W., M.G.), Huashan Hospital, Fudan University, Shanghai, China; Department of Biochemistry and Molecular Pharmacology (M.L., K.D., Y.-M.H.), Thomas Jefferson University, Philadelphia, PA; Department of Human Genetics (S.N.O., A.A.), University of Michigan Medical School, Ann Arbor, MI; Department of Pediatrics and Department of Obstetrics and Gynecology (S.L.), University of Hawaii School of Medicine, Honolulu, HI; Department of Medical Oncology and Therapeutics Research (T.P.S.), Division of Clinical Cancer Genetics, City of Hope National Medical Center, Duarte, CA; Department of Molecular and Human Genetics (P.L.M., A.L.M., L.E., S.R.L., Z.N., M.L.L., J.A.R., M.W., R.E.P., H.M., J.A.R., Y.Y., V.W.Z.), Baylor College of Medicine, Houston, TX; and AmCare Genomics Lab (V.W.Z.), Guangzhou, China.

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http://dx.doi.org/10.1212/NXG.0000000000000316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6515944PMC
April 2019

A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset.

J Neuromuscul Dis 2019 ;6(3):333-339

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.

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http://dx.doi.org/10.3233/JND-190404DOI Listing
January 2019

MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.

Eur J Med Genet 2018 Oct 12;61(10):616-620. Epub 2018 Apr 12.

Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133759PMC
October 2018

A genome-wide assessment of conserved SNP alleles reveals a panel of regulatory SNPs relevant to the peripheral nerve.

BMC Genomics 2018 May 2;19(1):311. Epub 2018 May 2.

Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1186/s12864-018-4692-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930951PMC
May 2018

Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease.

Hum Mol Genet 2017 10;26(R2):R114-R127

Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1093/hmg/ddx231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886470PMC
October 2017

Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.

Methods 2017 01 20;113:139-151. Epub 2016 Nov 20.

Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, United States; Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymeth.2016.11.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5253330PMC
January 2017

A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures.

Cold Spring Harb Mol Case Stud 2016 Jul;2(4):a000943

Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA;; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA.

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http://dx.doi.org/10.1101/mcs.a000943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990810PMC
July 2016

Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease.

Hum Mol Genet 2016 Apr 7;25(8):1528-42. Epub 2016 Feb 7.

Developmental Biology, Biomedical Research Foundation Academy of Athens, Soranou Ephessiou 4, 11527 Athens, Greece,

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http://dx.doi.org/10.1093/hmg/ddw031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805310PMC
April 2016

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Brain 2015 Aug 13;138(Pt 8):2161-72. Epub 2015 Jun 13.

2 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen 2610, Belgium 3 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen 2610, Belgium 16 Department of Neurology, Antwerp University Hospital, Antwerpen 2610, Belgium.

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http://dx.doi.org/10.1093/brain/awv158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840952PMC
August 2015

A novel AARS mutation in a family with dominant myeloneuropathy.

Neurology 2015 May 22;84(20):2040-7. Epub 2015 Apr 22.

From the Department of Neurology (W.W.M., S.S.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; the Cellular and Molecular Biology Program (L.B.G., A.A.), Medical Science Training Program (L.B.G.), and the Departments of Human Genetics (A.A.) and Neurology (A.A.), University of Michigan Medical School, Ann Arbor; the Neurogenetics Group (I.M., J.B., P.D.J.) and the Molecular Neurogenomics Group (E.D.V., A.J.), VIB, Department of Molecular Genetics, University of Antwerp; the Neurogenetics Laboratory (I.M., J.B., E.D.V., P.D.J., A.J.), Institute Born-Bunge, University of Antwerp; and the Department of Neurology (J.B., P.D.J.), Antwerp University Hospital, Belgium.

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http://dx.doi.org/10.1212/WNL.0000000000001583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4442103PMC
May 2015

Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.

Am J Hum Genet 2015 Apr 26;96(4):675-81. Epub 2015 Mar 26.

Medical Scientist Training Program, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Center for Genetic Medicine Research, Children's National Health System, Washington, DC 20010, USA; Departments of Integrated Systems Biology and of Pediatrics, George Washington University, Washington, DC 20052, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.02.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385183PMC
April 2015

Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.

Hum Mutat 2014 Nov;35(11):1363-71

Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, Michigan; Medical Scientist Training Program, University of Michigan Medical School, Ann Arbor, Michigan.

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http://dx.doi.org/10.1002/humu.22681DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213347PMC
November 2014

Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.

Hum Mol Genet 2014 Oct 15;23(19):5171-87. Epub 2014 May 15.

Department of Human Genetics Department of Neurology and Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI, USA

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http://dx.doi.org/10.1093/hmg/ddu240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4168306PMC
October 2014

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.

J Neurol Neurosurg Psychiatry 2013 Nov 1;84(11):1247-9. Epub 2013 Jun 1.

Dr John T McDonald Foundation Department of Human Genetics, John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, , Miami, Florida, USA.

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http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2013-305049
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http://dx.doi.org/10.1136/jnnp-2013-305049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3796032PMC
November 2013

To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations.

Curr Opin Genet Dev 2013 Jun 4;23(3):302-9. Epub 2013 Mar 4.

Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1016/j.gde.2013.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3703498PMC
June 2013

Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.

Muscle Nerve 2013 Jun 29;47(6):922-4. Epub 2013 Mar 29.

Northcott Neuroscience Laboratory, ANZAC Research Institute, Gate 3, Hospital Road, Concord, New South Wales, 2761, Australia.

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http://dx.doi.org/10.1002/mus.23743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5175269PMC
June 2013

Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22.

Hum Mol Genet 2012 Apr 15;21(7):1581-91. Epub 2011 Dec 15.

Program in Cellular and Molecular Biology, University of Wisconsin, Madison, WI 53705, USA.

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http://dx.doi.org/10.1093/hmg/ddr595DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3298281PMC
April 2012

The role of aminoacyl-tRNA synthetases in genetic diseases.

Annu Rev Genomics Hum Genet 2008 ;9:87-107

Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://www.annualreviews.org/doi/10.1146/annurev.genom.9.081
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http://dx.doi.org/10.1146/annurev.genom.9.081307.164204DOI Listing
December 2008

An evolutionarily conserved intronic region controls the spatiotemporal expression of the transcription factor Sox10.

BMC Dev Biol 2008 Oct 26;8:105. Epub 2008 Oct 26.

Centre for Regenerative Medicine, Department of Biology and Biochemistry, University of Bath, Bath, BA2 7AY, UK.

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http://dx.doi.org/10.1186/1471-213X-8-105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2601039PMC
October 2008

Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish.

PLoS Genet 2008 Sep 5;4(9):e1000174. Epub 2008 Sep 5.

Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

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https://dx.plos.org/10.1371/journal.pgen.1000174
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http://dx.doi.org/10.1371/journal.pgen.1000174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518861PMC
September 2008

Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region.

Neurogenetics 2008 Jul 6;9(3):191-5. Epub 2008 May 6.

Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, New South Wales, Australia.

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http://dx.doi.org/10.1007/s10048-008-0126-4DOI Listing
July 2008

Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg-Shah (WS4) syndrome.

Hum Mol Genet 2006 Jan 5;15(2):259-71. Epub 2005 Dec 5.

Geome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1093/hmg/ddi442DOI Listing
January 2006

Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.

Am J Hum Genet 2006 Jan 21;78(1):137-43. Epub 2005 Nov 21.

Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health (NIH), Rockville, MD 20850, USA.

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http://dx.doi.org/10.1086/499164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1380211PMC
January 2006

Detection of potential GDF6 regulatory elements by multispecies sequence comparisons and identification of a skeletal joint enhancer.

Genomics 2005 Sep;86(3):295-305

Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ygeno.2005.05.003DOI Listing
September 2005

SAP regulates T(H)2 differentiation and PKC-theta-mediated activation of NF-kappaB1.

Immunity 2004 Nov;21(5):693-706

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.immuni.2004.09.012DOI Listing
November 2004

Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation.

Am J Med Genet 2002 Jun;110(2):131-5

Department of Pediatrics and Immunology, Rambam Med Ctr, B. Rapapport School of Medicine, Technion, Haifa, Israel.

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http://dx.doi.org/10.1002/ajmg.10423DOI Listing
June 2002

Mutation of melanosome protein RAB38 in chocolate mice.

Proc Natl Acad Sci U S A 2002 Apr 26;99(7):4471-6. Epub 2002 Mar 26.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://www.pnas.org/cgi/doi/10.1073/pnas.072087599
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http://dx.doi.org/10.1073/pnas.072087599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC123672PMC
April 2002