List of works - Anthony Antonellis

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)

scientific article published on 18 December 2019

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

scientific article published on 2 May 2018

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo

scientific article published on 11 October 2012

A novel AARS mutation in a family with dominant myeloneuropathy

scientific article published on 22 April 2015

A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo

scientific article

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)

scientific article published on 9 November 2011

An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations

scientific article

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

scientific article

Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multi-system ataxic syndrome

scientific article published on 25 April 2020

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

scientific article published in Nature Communications

Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels

scientific article

Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease

scientific article published on 23 March 2018

Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation

scientific article published on 4 July 2017

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

scientific article

Correction: The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan.

scientific article

Cover Image, Volume 38, Issue 10

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

scientific article published on 5 December 2005

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

scientific article published in September 2005

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

scientific article

Direct interaction of Sox10 with the promoter of murine Dopachrome Tautomerase (Dct) and synergistic activation of Dct expression with Mitf

scientific article

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

scientific article published on 15 December 2011

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

scientific article

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

scientific article

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

scientific article published on June 2013

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

scientific article

Gpnmb is a melanoblast-expressed, MITF-dependent gene

scientific article

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

scientific article published on 15 May 2014

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Mutation of melanosome protein RAB38 in chocolate mice

scientific article

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

scientific article

Oligodendroglial and pan-neural crest expression of Cre recombinase directed by Sox10 enhancer

scientific article

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations

scientific article

Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations

scientific article published on 19 November 2016

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

scientific article published on 29 March 2013

SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer

scientific article

SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.

scientific article

SOX10 regulates expression of the SH3-domain kinase binding protein 1 (Sh3kbp1) locus in Schwann cells via an alternative promoter

scientific article published on 19 October 2011

Stringent comparative sequence analysis reveals SOX10 as a putative inhibitor of glial cell differentiation

scientific article

Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.

scientific article published on 12 December 2017

Tead1 regulates the expression of Peripheral Myelin Protein 22 during Schwann cell development

scientific article published on 10 June 2016

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan

scientific article

The role of aminoacyl-tRNA synthetases in genetic diseases

scientific article published on January 2008

List of works by Anthony Antonellis

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)

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

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo

A novel AARS mutation in a family with dominant myeloneuropathy

A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)

An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations

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

Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multi-system ataxic syndrome

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels

Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease

Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

Correction: The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan.

Cover Image, Volume 38, Issue 10

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

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

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

Direct interaction of Sox10 with the promoter of murine Dopachrome Tautomerase (Dct) and synergistic activation of Dct expression with Mitf

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

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

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

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

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

Gpnmb is a melanoblast-expressed, MITF-dependent gene

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

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

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

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

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

Mutation of melanosome protein RAB38 in chocolate mice

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

Oligodendroglial and pan-neural crest expression of Cre recombinase directed by Sox10 enhancer

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations

Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations

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

SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer

SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.

SOX10 regulates expression of the SH3-domain kinase binding protein 1 (Sh3kbp1) locus in Schwann cells via an alternative promoter

Stringent comparative sequence analysis reveals SOX10 as a putative inhibitor of glial cell differentiation

Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.

Tead1 regulates the expression of Peripheral Myelin Protein 22 during Schwann cell development

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan

The role of aminoacyl-tRNA synthetases in genetic diseases