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Article

Myofibrillar myopathy hallmarks associated with ZAK deficiency.

Human molecular genetics - 26 Aug 2023

Stonadge Amy, Genzor Aitana V, Russell Alex, Hamed Mohamed F, Romero Norma, Evans Gareth, Pownall Mary Elizabeth, Bekker-Jensen Simon, Blanco Gonzalo

Abstract excerpt

The ZAK gene encodes two functionally distinct kinases, ZAKα and ZAKβ. Homozygous loss of function mutations affecting both isoforms causes a congenital muscle disease. ZAKβ is the only isoform expressed in skeletal muscle and is activated by muscle contraction and cellular compression. The ZAKβ substrates in skeletal muscle or the mechanism whereby ZAKβ senses mechanical stress remains to be determined. To gain...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscle, Skeletal

Share to Myopathies, Structural, Congenital

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Identifiers

PMID: 37427997
DOI: 10.1093/hmg/ddad113
PMCID: PMC10789240

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