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

Sh3tc2 deficiency affects neuregulin-1/ErbB signaling

(2013) Estelle Arnaud Gouttenoire et al.   GLIA

The Protein Kinase A Regulatory Subunit R1A (Prkar1a) Plays Critical Roles in Peripheral Nerve Development

(2013) L. Guo et al.   JOURNAL OF NEUROSCIENCE

High-Dosage Ascorbic Acid Treatment in Charcot-Marie-Tooth Disease Type 1A

(2013) Richard A. Lewis   JAMA Neurology

Clinical, In Silico, and Experimental Evidence for Pathogenicity of Two Novel Splice Site Mutations in the SH3TC2 Gene

(2012) Petra Laššuthová et al.   JOURNAL OF NEUROGENETICS

Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C

(2012) Marion Yger et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Genome-wide analysis of EGR2/SOX10 binding in myelinating peripheral nerve

(2012) Rajini Srinivasan et al.   NUCLEIC ACIDS RESEARCH

CAPL: an efficient association software package using family and case-control data and accounting for population stratification

(2011) Ren-Hua Chung et al.   BMC BIOINFORMATICS

SH3TC2, a protein mutant in Charcot–Marie–Tooth neuropathy, links peripheral nerve myelination to endosomal recycling

(2011) Claudia Stendel et al.   BRAIN

High frequency of SH3TC2 mutations in Czech HMSN I patients

(2011) P Laššuthová et al.   CLINICAL GENETICS

Gpr126 is essential for peripheral nerve development and myelination in mammals

(2011) K. R. Monk et al.   DEVELOPMENT

Sox10 is required for Schwann-cell homeostasis and myelin maintenance in the adult peripheral nerve

(2011) Magdalena Bremer et al.   GLIA

Mouse schwann cells need both NRG1 and cyclic AMP to myelinate

(2011) Peter Arthur-Farraj et al.   GLIA

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

(2011) Erin A. Jones et al.   HUMAN MOLECULAR GENETICS

Functional Dissection of the Oct6 Schwann Cell Enhancer Reveals an Essential Role for Dimeric Sox10 Binding

(2011) N. B. Jagalur et al.   JOURNAL OF NEUROSCIENCE

Regulation of the PMP22 Gene through an Intronic Enhancer

(2011) E. A. Jones et al.   JOURNAL OF NEUROSCIENCE

Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial

(2011) Davide Pareyson et al.   LANCET NEUROLOGY

A CRE that binds CREB and contributes to PKA-dependent regulation of the proximal promoter of human RAB25 gene

(2010) Huiping Xue et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nrg1/ErbB signaling networks in Schwann cell development and myelination

(2010) Jason Newbern et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial

(2009) Camiel Verhamme et al.   BMC Medicine

Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway

(2009) Vincenzo Lupo et al.   HUMAN MOLECULAR GENETICS

Mistargeting of SH3TC2 away from the recycling endosome causes Charcot–Marie–Tooth disease type 4C

(2009) Rhys C. Roberts et al.   HUMAN MOLECULAR GENETICS

Activation ofKrox20gene expression by Sox10 in myelinating Schwann cells

(2009) Simone Reiprich et al.   JOURNAL OF NEUROCHEMISTRY

Effect of ascorbic acid in patients with Charcot–Marie–Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial

(2009) Joëlle Micallef et al.   LANCET NEUROLOGY

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

(2009) E. Arnaud et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A G Protein-Coupled Receptor Is Essential for Schwann Cells to Initiate Myelination

(2009) K. R. Monk et al.   SCIENCE

Identification of direct regulatory targets of the transcription factor Sox10 based on function and conservation

(2008) Kyung Lee et al.   BMC GENOMICS

Ascorbic acid is a regulator of the intracellular cAMP concentration: Old molecule, new functions?

(2008) F. Kaya et al.   FEBS LETTERS

The molecular machinery of myelin gene transcription in Schwann cells

(2008) John Svaren et al.   GLIA

Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster

(2008) Isabelle Gosselin et al.   NEUROMUSCULAR DISORDERS

Identification of Neural Crest and Glial Enhancers at the Mouse Sox10 Locus through Transgenesis in Zebrafish

(2008) Anthony Antonellis et al.   PLoS Genetics