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Article

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

Human molecular genetics - 1 Oct 2014

Brewer Megan Hwa, Ma Ki Hwan, Beecham Gary W, Gopinath Chetna, Baas Frank, Choi Byung-Ok, Reilly Mary M, Shy Michael E, Züchner Stephan, Svaren John, Antonellis Anthony

Abstract excerpt

Loss-of-function mutations in the Src homology 3 (SH3) domain and tetratricopeptide repeats 2 (SH3TC2) gene cause autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy. The SH3TC2 protein has been implicated in promyelination signaling through axonal neuregulin-1 and the ERBB2 Schwann...

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Source

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Identifiers

PMID: 24833716
DOI: 10.1093/hmg/ddu240
PMCID: PMC4168306

Genes

SOX10
ERBB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24833716-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.PMID 24833716Read ↗

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