Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.
about
C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoAThe sedoheptulose kinase CARKL directs macrophage polarization through control of glucose metabolismNephropathic cystinosis: an international consensus documentCharacterization of mammalian sedoheptulokinase and mechanism of formation of erythritol in sedoheptulokinase deficiencyTRPV1 dysfunction in cystinosis patients harboring the homozygous 57 kb deletionMolecular Identification of d-Ribulokinase in Budding Yeast and Mammals.Infertility associated with meiotic failure in the tremor rat (tm/tm) is caused by the deletion of spermatogenesis associated 22.Neurocognitive functioning in school-aged cystinosis patientsTime and Demand are Two Critical Dimensions of Immunometabolism: The Process of Macrophage Activation and the Pentose Phosphate Pathway.The return of metabolism: biochemistry and physiology of the pentose phosphate pathwayFirst two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations.Clinical utility gene card for: cystinosis.The pathogenesis of cystinosis: mechanisms beyond cystine accumulation.Sedoheptulose kinase regulates cellular carbohydrate metabolism by sedoheptulose 7-phosphate supply.Metabolite patterns predicting sex and age in participants of the Karlsruhe Metabolomics and Nutrition (KarMeN) study.Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene.Effects of long-term cysteamine treatment in patients with cystinosis.Octulose: a forgotten metabolite?SHPK phosphorylates Sedo to Sedo7P
P2860
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P2860
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Sedoheptulokinase deficiency d ...... elucidation of the CARKL gene.
@en
Sedoheptulokinase deficiency d ...... elucidation of the CARKL gene.
@nl
type
label
Sedoheptulokinase deficiency d ...... elucidation of the CARKL gene.
@en
Sedoheptulokinase deficiency d ...... elucidation of the CARKL gene.
@nl
prefLabel
Sedoheptulokinase deficiency d ...... elucidation of the CARKL gene.
@en
Sedoheptulokinase deficiency d ...... elucidation of the CARKL gene.
@nl
P2093
P2860
P356
P1433
P1476
Sedoheptulokinase deficiency d ...... elucidation of the CARKL gene.
@en
P2093
Cornelis Jakobs
Eduard A Struys
Elena N Levtchenko
Erwin E W Jansen
Fokje S M Zijlstra
Mirjam M C Wamelink
Ron A Wevers
Udo Engelke
P2860
P304
P356
10.1002/HUMU.20685
P50
P577
2008-04-01T00:00:00Z