http://purl.uniprot.org/citations/24035193 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/24035193 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/24035193 | http://www.w3.org/2000/01/rdf-schema#comment | "In guanosine diphosphate (GDP)-mannose pyrophosphorylase A (GMPPA), we identified a homozygous nonsense mutation that segregated with achalasia and alacrima, delayed developmental milestones, and gait abnormalities in a consanguineous Pakistani pedigree. Mutations in GMPPA were subsequently found in ten additional individuals from eight independent families affected by the combination of achalasia, alacrima, and neurological deficits. This autosomal-recessive disorder shows many similarities with triple A syndrome, which is characterized by achalasia, alacrima, and variable neurological deficits in combination with adrenal insufficiency. GMPPA is a largely uncharacterized homolog of GMPPB. GMPPB catalyzes the formation of GDP-mannose, which is an essential precursor of glycan moieties of glycoproteins and glycolipids and is associated with congenital and limb-girdle muscular dystrophies with hypoglycosylation of α-dystroglycan. Surprisingly, GDP-mannose pyrophosphorylase activity was unchanged and GDP-mannose levels were strongly increased in lymphoblasts of individuals with GMPPA mutations. This suggests that GMPPA might serve as a GMPPB regulatory subunit mediating feedback inhibition of GMPPB instead of displaying catalytic enzyme activity itself. Thus, a triple-A-like syndrome can be added to the growing list of congenital disorders of glycosylation, in which dysregulation rather than mere enzyme deficiency is the basal pathophysiological mechanism."xsd:string |
http://purl.uniprot.org/citations/24035193 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2013.08.002"xsd:string |
http://purl.uniprot.org/citations/24035193 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2013.08.002"xsd:string |
http://purl.uniprot.org/citations/24035193 | http://purl.uniprot.org/core/author | "Wada Y."xsd:string |
http://purl.uniprot.org/citations/24035193 | http://purl.uniprot.org/core/author | "Wada Y."xsd:string |
http://purl.uniprot.org/citations/24035193 | http://purl.uniprot.org/core/author | "Van Schaftingen E."xsd:string |
http://purl.uniprot.org/citations/24035193 | http://purl.uniprot.org/core/author | "Van Schaftingen E."xsd:string |
http://purl.uniprot.org/citations/24035193 | http://purl.uniprot.org/core/author | "Huebner A."xsd:string |
http://purl.uniprot.org/citations/24035193 | http://purl.uniprot.org/core/author | "Huebner A."xsd:string |
http://purl.uniprot.org/citations/24035193 | http://purl.uniprot.org/core/author | "Koehler K."xsd:string |
http://purl.uniprot.org/citations/24035193 | http://purl.uniprot.org/core/author | "Koehler K."xsd:string |
http://purl.uniprot.org/citations/24035193 | http://purl.uniprot.org/core/author | "Anyane-Yeboa K."xsd:string |
http://purl.uniprot.org/citations/24035193 | http://purl.uniprot.org/core/author | "Anyane-Yeboa K."xsd:string |
http://purl.uniprot.org/citations/24035193 | http://purl.uniprot.org/core/author | "Nurnberg G."xsd:string |
http://purl.uniprot.org/citations/24035193 | http://purl.uniprot.org/core/author | "Nurnberg G."xsd:string |
http://purl.uniprot.org/citations/24035193 | http://purl.uniprot.org/core/author | "Nurnberg P."xsd:string |
http://purl.uniprot.org/citations/24035193 | http://purl.uniprot.org/core/author | "Nurnberg P."xsd:string |
http://purl.uniprot.org/citations/24035193 | http://purl.uniprot.org/core/author | "Thiele H."xsd:string |
http://purl.uniprot.org/citations/24035193 | http://purl.uniprot.org/core/author | "Thiele H."xsd:string |
http://purl.uniprot.org/citations/24035193 | http://purl.uniprot.org/core/author | "Babovic-Vuksanovic D."xsd:string |
http://purl.uniprot.org/citations/24035193 | http://purl.uniprot.org/core/author | "Babovic-Vuksanovic D."xsd:string |
http://purl.uniprot.org/citations/24035193 | http://purl.uniprot.org/core/author | "Coubes C."xsd:string |
http://purl.uniprot.org/citations/24035193 | http://purl.uniprot.org/core/author | "Coubes C."xsd:string |