The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain
about
Genetic modulation of striatal volume by loci on Chrs 6 and 17 in BXD recombinant inbred mice.Mutations in NHLRC1 cause progressive myoclonus epilepsy.Laforin, a protein with many faces: glucan phosphatase, adapter protein, et alii.Lafora disease, seizures and sugars.Protein tyrosine phosphatases: dual-specificity phosphatases in health and disease.Glycogen and its metabolism: some new developments and old themes.Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease.Thermodynamic and structural analysis of human NFU conformational chemistry.Iron-sulfur cluster biosynthesis: characterization of a molten globule domain in human NFU.Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers?Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan.Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathway.Iron-sulfur cluster exchange reactions mediated by the human Nfu protein.Assessing the Biological Activity of the Glucan Phosphatase LaforinProtein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.Regulation of human Nfu activity in Fe-S cluster delivery-characterization of the interaction between Nfu and the HSPA9/Hsc20 chaperone complex.Understanding the Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1)-Impact of a Disease-Causing Gly208Cys Substitution on Structure and Activity of NFU1 in the Fe/S Cluster Biosynthetic Pathway.Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease.
P2860
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P248
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P2860
The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain
description
2003 nî lūn-bûn
@nan
2003 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
The Lafora disease gene produc ...... containing a NifU-like domain
@ast
The Lafora disease gene produc ...... containing a NifU-like domain
@en
The Lafora disease gene produc ...... containing a NifU-like domain
@en-gb
The Lafora disease gene produc ...... containing a NifU-like domain
@nl
type
label
The Lafora disease gene produc ...... containing a NifU-like domain
@ast
The Lafora disease gene produc ...... containing a NifU-like domain
@en
The Lafora disease gene produc ...... containing a NifU-like domain
@en-gb
The Lafora disease gene produc ...... containing a NifU-like domain
@nl
prefLabel
The Lafora disease gene produc ...... containing a NifU-like domain
@ast
The Lafora disease gene produc ...... containing a NifU-like domain
@en
The Lafora disease gene produc ...... containing a NifU-like domain
@en-gb
The Lafora disease gene produc ...... containing a NifU-like domain
@nl
P2093
P50
P356
P1476
The Lafora disease gene produc ...... containing a NifU-like domain
@en
P2093
Hiroyuki Osada
Kazunori Ueda
Kishan Lal Agarwala
Naomi Tsurutani
Subramaniam Ganesh
P304
P356
10.1093/HMG/DDG253
P407
P577
2003-07-29T00:00:00Z