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: UNIPROT:P62988 (
Ubiquitin
)
4,326
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Mucolipidosis type II is an autosomal recessive lysosomal storage disease caused by N-acetylglucosamine-1-phosphotransferese deficiency. We report here pathological findings of an autopsy case of mucolipidosis type II. The patient was an 8-year-old boy with mucolipidosis type II and was complicated with
hypertrophic cardiomyopathy
. He suddenly developed progressive respiratory failure and finally died. At autopsy, systemic accumulation of undigested lysosomal metabolites was prominent, particularly in the heart, lungs, and dorsal root ganglion. In cardiomyocyte, LC3, an autophagy marker, was positive in the cytoplasm.
Ubiquitin
, p62, K48
polyubiquitin
, and K63
polyubiquitin
were also positive in the cytoplasm. Our findings suggest that autophagic dysfunction might be associated with the cardiomyopahty of mucolipidosis type II.
...
PMID:Systemic accumulation of undigested lysosomal metabolites in an autopsy case of mucolipidosis type II; autophagic dysfunction in cardiomyocyte. 2485 10
