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Article

Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development.

Human molecular genetics - 15 May 2018

Martinez Carrera Lilian A, Gabriel Elke, Donohoe Colin D, Hölker Irmgard, Mariappan Aruljothi, Storbeck Markus, Uhlirova Mirka, Gopalakrishnan Jay, Wirth Brunhilde

Abstract excerpt

Bicaudal D2 (BICD2) encodes a highly conserved motor adaptor protein that regulates the dynein-dynactin complex in different cellular processes. Heterozygous mutations in BICD2 cause autosomal dominant lower extremity-predominant spinal muscular atrophy-2 (SMALED2). Although, various BICD2 mutations have been shown to alter interactions with different binding partners or the integrity of the Golgi apparatus, the...

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Identifiers

PMID: 29528393
DOI: 10.1093/hmg/ddy086

Genes

BICD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development.PMID 29528393Read ↗

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Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.Semantic proximity Read ↗

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