FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1587565802> ?p ?o ?g. }

• W1587565802 endingPage "85" @default.
• W1587565802 startingPage "79" @default.
• W1587565802 abstract "Combined methylmalonic aciduria and homocystinuria, cblC type (MMACHC), is the most common inborn error of cellular vitamin B12 metabolism and is caused by mutations in the MMACHC gene. This metabolic disease results in impaired intracellular synthesis of adenosylcobalamin and methylcobalamin, coenzymes for the methylmalonyl-CoA mutase and methionine synthase enzymes, respectively. The inability to produce normal levels of these two coenzymes leads to increased concentrations of methylmalonic acid and homocysteine in plasma and urine, together with normal or decreased concentration of methionine in plasma. Here, we report a novel homozygous deletion mutation (NM_015506.2:c.392_394del) resulting in an in-frame deletion of amino acid Gln131 and late-onset disease in a 23-year-old male. The patient presented with sensory and motoric disabilities, urine and fecal incontinence, and light cognitive impairment. There was an excessive urinary excretion of methylmalonic acid and greatly elevated plasma homocysteine. The clinical symptoms and the laboratory abnormalities responded partly to treatment with hydroxycobalamin, folinic acid, methionine, and betaine. Studies on patient fibroblasts together with spectroscopic activity assays on recombinant MMACHC protein reveal that Gln131 is crucial in order to maintain enzyme activity. Furthermore, structural analyses show that Gln131 is one of only two residues making hydrogen bonds to the tail of cobalamin. Circular dichroism spectroscopy indicates that the 3D structure of the deletion mutant is folded but perturbed compared to the wild-type protein." @default.
• W1587565802 created "2016-06-24" @default.
• W1587565802 creator A5021161802 @default.
• W1587565802 creator A5024683521 @default.
• W1587565802 creator A5035257595 @default.
• W1587565802 creator A5036064271 @default.
• W1587565802 creator A5064567631 @default.
• W1587565802 creator A5073746498 @default.
• W1587565802 creator A5077316309 @default.
• W1587565802 creator A5090064117 @default.
• W1587565802 date "2013-01-01" @default.
• W1587565802 modified "2023-09-25" @default.
• W1587565802 title "Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type" @default.
• W1587565802 cites W1494653856 @default.
• W1587565802 cites W1964155382 @default.
• W1587565802 cites W1972215954 @default.
• W1587565802 cites W1993380416 @default.
• W1587565802 cites W1998188098 @default.
• W1587565802 cites W2005931809 @default.
• W1587565802 cites W2019403967 @default.
• W1587565802 cites W2019630878 @default.
• W1587565802 cites W2062685874 @default.
• W1587565802 cites W2069736298 @default.
• W1587565802 cites W2075878301 @default.
• W1587565802 cites W2079114612 @default.
• W1587565802 cites W2152552555 @default.
• W1587565802 cites W2156435321 @default.
• W1587565802 doi "https://doi.org/10.1007/8904_2013_225" @default.
• W1587565802 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3755550" @default.
• W1587565802 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23580368" @default.
• W1587565802 hasPublicationYear "2013" @default.
• W1587565802 type Work @default.
• W1587565802 sameAs 1587565802 @default.
• W1587565802 citedByCount "10" @default.
• W1587565802 countsByYear W15875658022014 @default.
• W1587565802 countsByYear W15875658022015 @default.
• W1587565802 countsByYear W15875658022016 @default.
• W1587565802 countsByYear W15875658022017 @default.
• W1587565802 countsByYear W15875658022022 @default.
• W1587565802 crossrefType "book-chapter" @default.
• W1587565802 hasAuthorship W1587565802A5021161802 @default.
• W1587565802 hasAuthorship W1587565802A5024683521 @default.
• W1587565802 hasAuthorship W1587565802A5035257595 @default.
• W1587565802 hasAuthorship W1587565802A5036064271 @default.
• W1587565802 hasAuthorship W1587565802A5064567631 @default.
• W1587565802 hasAuthorship W1587565802A5073746498 @default.
• W1587565802 hasAuthorship W1587565802A5077316309 @default.
• W1587565802 hasAuthorship W1587565802A5090064117 @default.
• W1587565802 hasBestOaLocation W15875658022 @default.
• W1587565802 hasConcept C126322002 @default.
• W1587565802 hasConcept C134018914 @default.
• W1587565802 hasConcept C185592680 @default.
• W1587565802 hasConcept C2777090595 @default.
• W1587565802 hasConcept C2778159418 @default.
• W1587565802 hasConcept C2778979354 @default.
• W1587565802 hasConcept C2779375456 @default.
• W1587565802 hasConcept C2779750884 @default.
• W1587565802 hasConcept C2779761754 @default.
• W1587565802 hasConcept C2779821038 @default.
• W1587565802 hasConcept C2780676250 @default.
• W1587565802 hasConcept C2780912031 @default.
• W1587565802 hasConcept C2910256814 @default.
• W1587565802 hasConcept C515207424 @default.
• W1587565802 hasConcept C55493867 @default.
• W1587565802 hasConcept C71924100 @default.
• W1587565802 hasConcept C80315684 @default.
• W1587565802 hasConcept C86803240 @default.
• W1587565802 hasConceptScore W1587565802C126322002 @default.
• W1587565802 hasConceptScore W1587565802C134018914 @default.
• W1587565802 hasConceptScore W1587565802C185592680 @default.
• W1587565802 hasConceptScore W1587565802C2777090595 @default.
• W1587565802 hasConceptScore W1587565802C2778159418 @default.
• W1587565802 hasConceptScore W1587565802C2778979354 @default.
• W1587565802 hasConceptScore W1587565802C2779375456 @default.
• W1587565802 hasConceptScore W1587565802C2779750884 @default.
• W1587565802 hasConceptScore W1587565802C2779761754 @default.
• W1587565802 hasConceptScore W1587565802C2779821038 @default.
• W1587565802 hasConceptScore W1587565802C2780676250 @default.
• W1587565802 hasConceptScore W1587565802C2780912031 @default.
• W1587565802 hasConceptScore W1587565802C2910256814 @default.
• W1587565802 hasConceptScore W1587565802C515207424 @default.
• W1587565802 hasConceptScore W1587565802C55493867 @default.
• W1587565802 hasConceptScore W1587565802C71924100 @default.
• W1587565802 hasConceptScore W1587565802C80315684 @default.
• W1587565802 hasConceptScore W1587565802C86803240 @default.
• W1587565802 hasLocation W15875658021 @default.
• W1587565802 hasLocation W15875658022 @default.
• W1587565802 hasLocation W15875658023 @default.
• W1587565802 hasLocation W15875658024 @default.
• W1587565802 hasOpenAccess W1587565802 @default.
• W1587565802 hasPrimaryLocation W15875658021 @default.
• W1587565802 hasRelatedWork W1982358647 @default.
• W1587565802 hasRelatedWork W2004927940 @default.
• W1587565802 hasRelatedWork W2130265484 @default.
• W1587565802 hasRelatedWork W2150031347 @default.
• W1587565802 hasRelatedWork W2276306589 @default.
• W1587565802 hasRelatedWork W2317916990 @default.
• W1587565802 hasRelatedWork W2337190272 @default.

• next