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Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene
- Source :
- Human Mutation, 29(4), 532-536. Wiley-Liss Inc., Human Mutation, 29, 532-6, Human Mutation, 29, 4, pp. 532-6, Wamelink, M M C, Struijs, E A, Jansen, E E W, Levtchenko, E N, Zijlstra, F S M, Engelke, U, Blom, H J, Jakobs, C A J M & Wevers, R A 2008, ' Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene ', Human Mutation, vol. 29, no. 4, pp. 532-536 . https://doi.org/10.1002/humu.20685
- Publication Year :
- 2008
-
Abstract
- Contains fulltext : 71077.pdf (Publisher’s version ) (Closed access) The most common mutation in the nephropathic cystinosis (CTNS) gene is a homozygous 57-kb deletion that also includes an adjacent gene carbohydrate kinase-like (CARKL). The latter gene encodes a protein that is predicted to function as a carbohydrate kinase. Cystinosis patients with the common 57-kb deletion had strongly elevated urinary concentrations of sedoheptulose (28-451 mmol/mol creatinine; controls and other cystinosis patients sedoheptulose-7-phosphate + ADP and that deletion of CARKL causes urinary accumulation of sedoheptulose and erythritol.
- Subjects :
- Adult
Energy and redox metabolism [NCMLS 4]
Adolescent
Cystinosis
Genes, Recessive
Biology
Neuroinformatics [DCN 3]
Transaldolase deficiency
medicine.disease_cause
Models, Biological
Pentose Phosphate Pathway
chemistry.chemical_compound
Nephropathic Cystinosis
Genetics
medicine
Perception and Action [DCN 1]
Humans
Child
Gene
Genetics (clinical)
Sequence Deletion
Mutation
Cardiovascular diseases [NCEBP 14]
Kinase
Phosphotransferases
Chromosome Mapping
Infant
Glycostation disorders [IGMD 4]
Fibroblasts
medicine.disease
Heptoses
Molecular biology
Neuromuscular development and genetic disorders [UMCN 3.1]
Phosphotransferases (Alcohol Group Acceptor)
Sedoheptulose
Amino Acid Transport Systems, Neutral
Erythritol
chemistry
Biochemistry
Genetic defects of metabolism [UMCN 5.1]
Case-Control Studies
Sedoheptulokinase
Transcription Factors
Subjects
Details
- ISSN :
- 10597794
- Volume :
- 29
- Database :
- OpenAIRE
- Journal :
- Human Mutation
- Accession number :
- edsair.doi.dedup.....0b1c830bcc9ea91d527781a48607f483