原站：http://www.ncbi.nlm.nih.gov/...d=Search&db=pubmed&term=lafora

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“pubmed: lafora”的内容更新

累计：86 篇（自 2008-10-10 起）

更新：约2篇/月，最后更新9 天前

pubmed: lafora

Autophagy defects in Lafora disease: Cause or conseq

autophagy defects in lafora disease: cause or consequence? autophagy. 2012 feb 1;8(2) authors: puri r, ganesh s abstract lafora disease (ld) is an inherited and fatal form of neurodegenerative disorder characterized by the presence of an abnormal form of glycogen inclusions, called lafora bodies, in neurons and other tissues. while lafora bodies h... (9 天前)

http://inezha.com/w/2m3dh9o

pubmed: lafora

Glycogen and its metabolism: some new developments a

glycogen and its metabolism: some new developments and old themes. biochem j. 2012 feb 1;441(3):763-87 authors: roach pj, depaoli-roach aa, hurley td, tagliabracci vs abstract glycogen is a branched polymer of glucose that acts as a store of energy in times of nutritional sufficiency for utilization in times of need. its metabolism has been the su... (24 天前)

http://inezha.com/w/8zae09r

pubmed: lafora

Malin regulates Wnt signalling pathway through degra

malin regulates wnt signalling pathway through degradation of dishevelled 2. j biol chem. 2012 jan 5; authors: sharma j, mulherkar s, mukherjee d, jana nr abstract using yeast-two hybrid screening followed by co-immunoprecipitation assay we have found that lafora disease ubiquitin ligase malin interacts with dishevelled2, a key mediator of wnt sig... (35 天前)

http://inezha.com/w/oyc2z9h

pubmed: lafora

[[When skin biopsy may label an epilepsy]].

[[when skin biopsy may label an epilepsy]]. pan afr med j. 2011;10:26 authors: harmouch t, gallouj s, znati k, sennou as, belahcen f, amarti a abstract la maladie de lafora (ml) représente une forme rare et grave d'épilepsie myoclonique progressive. c'est une affection à transmission autosomique récessive, hétérogène sur le plan génétique... (52 天前)

http://inezha.com/w/jo3tn99

pubmed: lafora

Lafora bodies and neurological defects in malin-defi

lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy. hum mol genet. 2011 dec 20; authors: criado o, aguado c, gayarre j, duran l, garcia-cabrero am, vernia s, millán bs, heredia m, romá-mateo c, mouron s, juana-lópez l, domínguez m, navarro c, serratosa jm, sanchez m, sanz p, bovolenta p, knecht e, rod... (52 天前)

http://inezha.com/w/hnaa895

pubmed: lafora

LAFORIN AND MALIN KNOCKOUT MICE HAVE NORMAL GLUCOSE

laforin and malin knockout mice have normal glucose disposal and insulin sensitivity. hum mol genet. 2011 dec 20; authors: depaoli-roach aa, segvich dm, meyer cm, rahimi y, worby ca, gentry ms, roach pj abstract lafora disease is a fatal, progressive myoclonus epilepsy caused in ~90% of cases by mutations in the epm2a or epm2b genes. characteristi... (52 天前)

http://inezha.com/w/gucitm2

pubmed: lafora

DNA screening for Lafora's disease in miniature wire

dna screening for lafora's disease in miniature wire-haired dachshunds. vet rec. 2011 sep 10;169(11):292 authors: sainsbury r pmid: 21908571 [pubmed - indexed for medline] ... (60 天前)

http://inezha.com/w/u53pdmq

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