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Article

SMA mutations in SMN Tudor and C-terminal domains destabilize the protein.

Brain & development - 1 Aug 2017

Takarada Toru, Ar Rochmah Mawaddah, Harahap Nur Imma Fatimah, Shinohara Masakazu, Saito Toshio, Saito Kayoko, Lai Poh San, Bouike Yoshihiro, Takeshima Yasuhiro, Awano Hiroyuki, Morioka Ichiro, Iijima Kazumoto, Nishio Hisahide, Takeuchi Atsuko

Abstract excerpt

BACKGROUND AND PURPOSE: Most spinal muscular atrophy (SMA) patients are homozygous for survival of motor neuron 1 gene (SMN1) deletion. However, some SMA patients carry an intragenic SMN1 mutation. Such patients provide a clue to understanding the function of the SMN protein and the role of each domain of the protein. We previously identified mutations in the Tudor domain and C-terminal region of the SMN protein...

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Source

Identifiers

PMID: 28366534
DOI: 10.1016/j.braindev.2017.03.002

Genes

SMN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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SMA mutations in SMN Tudor and C-terminal domains destabilize the protein.PMID 28366534Read ↗

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