Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:3.4.22.54 (
calpain 3
)
430
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
p94
, a muscle-specific member of the calpain family, also called calpain3 (CAPN3), has been identified as the gene product responsible for limb-girdle muscular dystrophy type 2A (LGMD2A). To elucidate the molecular mechanism of LGMD2A, the effects of missense point mutations found in LGMD2A on the unique properties of
p94
were studied. All of the mutants examined to date lose their proteolytic activity against fodrin, a
cytoskeletal protein
, strongly suggesting that of the specific properties of
p94
, the loss of protease activity is the prime cause of LGMD2A. Studies of LGMD2A and
p94
suggest a novel molecular mechanism for muscular dystrophy, showing that a combined pathologic and biochemical approach is effective.
...
PMID:New aspect of the research on limb-girdle muscular dystrophy 2A: a molecular biologic and biochemical approach to pathology. 1063 25
