A Heterologous Cell Model for Studying the Role of T-Cell Intracellular Antigen 1 in Welander Distal Myopathy | Zendy

Isabel Carrascoso | Zendy; Carmen Sánchez-Jiménez | Zendy; Elena Silion | Zendy; José Alcalde | Zendy; José M. Izquierdo | Zendy

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A Heterologous Cell Model for Studying the Role of T-Cell Intracellular Antigen 1 in Welander Distal Myopathy

Author(s) -

Isabel Carrascoso,

Carmen Sánchez-Jiménez,

Elena Silion,

José Alcalde,

José M. Izquierdo

Publication year - 2018

Publication title -

molecular and cellular biology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.14

H-Index - 327

eISSN - 1067-8824

pISSN - 0270-7306

DOI - 10.1128/mcb.00299-18

Subject(s) - biology , microbiology and biotechnology , stress granule , rna splicing , autophagy , genetics , gene , rna , apoptosis , messenger rna , translation (biology)

Welander distal myopathy (WDM) is a muscle dystrophy characterized by adult-onset distal muscle weakness, prevalently impacting the distal long extensors of the hands and feet. WDM is an autosomal dominant disorder caused by a missense mutation (c.1362G>A; p.E384K) in the TIA1 (T-cell intracellular antigen 1) gene, which encodes an RNA-binding protein basically required for the posttranscriptional regulation of RNAs.

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