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The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
The association of mtDNA depletion with mutated DGUOK suggests that the salvage-pathway enzymes are involved in the maintenance of balanced mitochondrial dNTP pools.
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
- Ann Saada, A. Shaag, H. Mandel, Y. Nevo, S. Eriksson, O. Elpeleg
- BiologyNature Genetics
- 1 November 2001
Mutations in TK2 represent a new etiology for mitochondrial DNA depletion, underscoring the importance of the mitochondrial dNTP pool in the pathogenesis of mitochondrial depletion.
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.
Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.
Recombinant human acid alpha-glucosidase is safe and effective for treatment of infantile-onset Pompe disease and the young age at which these patients initiated therapy may have contributed to their improved response compared to previous trials with recombinant human acids in which patients were older.
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome
To elucidate the molecular basis of ARC, the disease was mapped to a 7-cM interval on 15q26.1 and germline mutations in the gene VPS33B in 14 kindreds with ARC were identified, which encodes a homolog of the class C yeast vacuolar protein sorting gene, Vps33, that contains a Sec1-like domain important in the regulation of vesicle-to-target SNARE complex formation and subsequent membrane fusion.
Acute infantile liver failure due to mutations in the TRMU gene.
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
- J. Häberle, A. Burlina, C. Dionisi-Vici
- MedicineJournal of inherited metabolic disease
- 1 November 2019
This revised guideline for diagnosis and therapy of urea cycle disorders will have a positive impact on the outcomes of patients by establishing common standards, and spreading and harmonizing good practices, and may also promote the identification of knowledge voids to be filled by future research.
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization
It is shown that VIPAR forms a functional complex with VPS33B that interacts with RAB11A that has diverse functions in the pathways regulating apical-basolateral polarity in the liver and kidney.
Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness
Thiamine-responsive megaloblastic anaemia (TRMA), also known as Rogers syndrome, is an early onset, autosomal recessive disorder defined by the occurrence of megaloblastic anaemia, diabetes mellitus…