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Fig. 5 | Acta Neuropathologica Communications

Fig. 5

From: Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization

Fig. 5

Pathogenic mechanism of missense variants in NHL domain of TRIM32 gene. Variants in the NHL domain of TRIM32 lead to impaired oligomerization and structural stability of the protein, subsequently hindering interaction and ubiquitination with critical substrates essential for maintaining muscle homeostasis. This cascade ultimately results in muscle atrophy and impaired muscle regeneration, with a clinical phenotype of proximal muscle weakness, and in severe cases, reliance on walking aids or wheelchairs for travel. NHL domain (purple on TRIM32): mediates oligomerization; TRIM32 (blue): interaction and ubiquitination with substrates; Substrate (yellow): related to muscle homeostasis. The material of the figure is provided by figdraw2.0

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Acta Neuropathologica Communications

ISSN: 2051-5960

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