Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).
about
The human homolog of Saccharomyces cerevisiae Apg7p is a Protein-activating enzyme for multiple substrates including human Apg12p, GATE-16, GABARAP, and MAP-LC3ABCA5 resides in lysosomes, and ABCA5 knockout mice develop lysosomal disease-like symptomsA mammalian autophagosome maturation mechanism mediated by TECPR1 and the Atg12-Atg5 conjugateHuman autophagins, a family of cysteine proteinases potentially implicated in cell degradation by autophagyAutophagic substrate clearance requires activity of the syntaxin-5 SNARE complexLAMP1/CD107a is required for efficient perforin delivery to lytic granules and NK-cell cytotoxicityLiver injury in alpha1-antitrypsin deficiency: an aggregated protein induces mitochondrial injuryAutophagy in lysosomal storage disordersHistone deacetylase (HDAC) inhibitors attenuate cardiac hypertrophy by suppressing autophagyAutophagy, mitochondria and oxidative stress: cross-talk and redox signallingIn vivo analysis of autophagy in response to nutrient starvation using transgenic mice expressing a fluorescent autophagosome markerDissection of autophagosome formation using Apg5-deficient mouse embryonic stem cellsUBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndromeThe beneficial role of proteolysis in skeletal muscle growth and stress adaptationTherapeutic targeting of autophagy: potential and concerns in treating cardiovascular diseaseWhy should autophagic flux be assessed?Autophagy in cardiovascular biologyDanon disease: clinical features, evaluation, and managementLysosomal membrane proteins and their central role in physiologyLysosomal proteins in cell death and autophagyA missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage diseaseVAMP7 regulates constitutive membrane incorporation of the cold-activated channel TRPM8.Crystal structure of the conserved domain of the DC lysosomal associated membrane protein: implications for the lysosomal glycocalyxThe role of sirtuins in cardiac diseaseAutophagy in the Pathogenesis of DiseaseAtg23 is essential for the cytoplasm to vacuole targeting pathway and efficient autophagy but not pexophagy.Vici syndrome: a reviewDisrupted autophagy undermines skeletal muscle adaptation and integrityDanon disease - dysregulation of autophagy in a multisystem disorder with cardiomyopathyLIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in miceProtein quality control and metabolism: bidirectional control in the heartVMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathyLysosomal integral membrane protein 2 is a novel component of the cardiac intercalated disc and vital for load-induced cardiac myocyte hypertrophyMitophagy and heart failureClinical utility of LC3 and p62 immunohistochemistry in diagnosis of drug-induced autophagic vacuolar myopathies: a case-control studyImpaired glucose tolerance in a mouse model of sidt2 deficiencyRole of LAMP-2 in lysosome biogenesis and autophagyImpairment of starvation-induced and constitutive autophagy in Atg7-deficient miceLAMP-2 is required for incorporating syntaxin-17 into autophagosomes and for their fusion with lysosomes.Autophagy as a regulated pathway of cellular degradation
P2860
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P2860
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).
description
2000 nî lūn-bûn
@nan
2000 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Primary LAMP-2 deficiency caus ...... and myopathy (Danon disease).
@ast
Primary LAMP-2 deficiency caus ...... and myopathy (Danon disease).
@en
type
label
Primary LAMP-2 deficiency caus ...... and myopathy (Danon disease).
@ast
Primary LAMP-2 deficiency caus ...... and myopathy (Danon disease).
@en
prefLabel
Primary LAMP-2 deficiency caus ...... and myopathy (Danon disease).
@ast
Primary LAMP-2 deficiency caus ...... and myopathy (Danon disease).
@en
P2093
P356
P1433
P1476
Primary LAMP-2 deficiency caus ...... and myopathy (Danon disease).
@en
P2093
Murakami N
P2888
P304
P356
10.1038/35022604
P407
P50
P577
2000-08-01T00:00:00Z
P5875
P6179
1016938876