Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
about
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patientsHow to move an amphipathic molecule across a lipid bilayer: different mechanisms for different ABC transporters?Peroxisomal ABC transporters: functions and mechanismNavigating the B(12) road: assimilation, delivery, and disorders of cobalaminProposed guidelines for the diagnosis and management of methylmalonic and propionic acidemiaLysosomal membrane proteins and their central role in physiologyABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human DiseaseThe C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioningCharacterization of functional domains of the cblD (MMADHC) gene productAn X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1Glutathione-dependent one-electron transfer reactions catalyzed by a B₁₂ trafficking protein.De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity.A review of vitamin B12 in dermatology.Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism.Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes.Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets.Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling.Cobalamin C deficiency in an adolescent with altered mental status and anorexiaNewborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN ReductasesBrg1 coordinates multiple processes during retinogenesis and is a tumor suppressor in retinoblastoma.A vitamin B₁₂ transporter in Mycobacterium tuberculosis.Absorption and blood/cellular transport of folate and cobalamin: Pharmacokinetic and physiological considerationsAn extended proteome map of the lysosomal membrane reveals novel potential transporters.Impaired very long-chain acyl-CoA β-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction.An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogsPharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.Lmbrd1 expression is essential for the initiation of gastrulationDefect of cobalamin intracellular metabolism presenting as diabetic ketoacidosis: a rare manifestation.Vitamin B(12) metabolism during pregnancy and in embryonic mouse models.Perturbation of neuronal cobalamin transport by lysosomal enzyme inhibitionGuidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.Genetic defects in folate and cobalamin pathways affecting the brain.Role of ABC transporters in lipid transport and human disease.Vitamin B(12) metabolism in Mycobacterium tuberculosis.Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.Cobalamin coenzyme forms are not likely to be superior to cyano- and hydroxyl-cobalamin in prevention or treatment of cobalamin deficiency.Correlations Between Methionine Cycle Metabolism, COMT Genotype, and Polyneuropathy in L-Dopa Treated Parkinson's Disease: A Preliminary Cross-Sectional Study.Predictive Structure and Topology of Peroxisomal ATP-Binding Cassette (ABC) Transporters.Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.
P2860
Q24321329-3FAF4547-C0C2-4E61-80CF-69550D3257F1Q26747202-CC3CE522-6BCF-43CF-8391-F80882F3E1CDQ26777723-17633BCE-3F4C-4C33-A989-03BDD76E3C60Q26830802-B71C2E8B-25FC-42E4-971C-47FBD279C39FQ26865440-1FDEC968-7B9D-4B86-81C8-DC3E992D7B56Q27013815-3C08B77B-F9E1-4259-A283-B268834F8047Q28068772-2E41D5F7-9954-45D3-AF8A-4ED78363DD69Q28118948-D1066C1E-1A25-4D52-8190-3BAB768EE02BQ28119111-11F6CC34-2C84-4EDB-A3C4-141E38A11F19Q28298001-CD4C4D29-B0BE-49F6-89C9-E118CB796734Q33718571-AD6D145F-F3C8-48D4-8FCD-C7704FB88234Q33767203-B08E0025-8D8F-4369-A0C8-6230B6E836CFQ34456556-B78D5BA9-D4DE-4A33-B28A-8CA19C9B15B8Q34560178-307E20C9-D533-4865-BA83-E15F12A4ABE9Q34734645-9DA192A8-9721-4203-9FC8-FA20235AC35AQ34765381-741693A6-CF11-4DB8-A48B-E60F03EA1DF4Q35561002-0B5348F1-92EA-4751-AC96-AC7777651217Q35943192-F90C21EC-CA49-41E2-81FB-6DF60C184A17Q36226353-476914E1-4BAD-4F5D-81AA-298F75BC2030Q36443993-05B5CA4D-7399-4B24-A9FC-56C2E2FE1EE4Q36462514-AE36190C-2083-408D-BD17-F5CB35FDA010Q36702412-84B04C85-A268-42C2-AC58-6CFD7EB45DEFQ36901583-69CCFD88-3107-473D-BC4F-54880D680393Q36910788-1C9ED95B-3F91-42C2-8D20-A076E6C06604Q36967430-8B232187-1157-4A10-93B8-C5F0AC6E1B9CQ37060621-35FCA3C1-4951-47C5-BD8A-8BDB27C5A6CEQ37111958-D5365A56-7D9A-41D3-865B-08A6F505EC14Q37117150-29B358CC-A14F-4511-821E-723E0EDE31C9Q37127608-C18FA353-7723-4071-93DB-1FDF33CE5C25Q37235374-07B3B209-FD8C-4D8F-94B8-38F163479695Q37537087-43822DCF-FF61-4540-BF49-AA5AFCD8F69CQ37547491-A7617352-6C9F-44A7-8FA1-8541D1EB49C9Q38062808-2E74317D-B7D1-45C5-9ED9-D908E1CE956DQ38082105-B4F8F7C7-9816-48A9-99E6-0A7AB761F004Q38160534-258DE771-50FC-45D4-B0F9-DBC96813E6F8Q38299753-D27999BA-4984-4F7A-A7FC-08C9CCD00F78Q38395179-A115ACAC-DC3E-459A-97B9-523C62A54261Q38649251-AB636A45-D747-446A-ACB4-E033688AC386Q38665053-9BACE681-F626-43F7-94AC-806EED77F5DBQ38701568-EFBB990E-3D1F-4020-A136-2C3C52DD5178
P2860
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
description
2012 nî lūn-bûn
@nan
2012 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
@ast
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
@en
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
@en-gb
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
@nl
type
label
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
@ast
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
@en
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
@en-gb
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
@nl
prefLabel
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
@ast
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
@en
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
@en-gb
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
@nl
P2093
P2860
P50
P921
P3181
P356
P1433
P1476
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
@en
P2093
Brian Fowler
David S Rosenblatt
David Watkins
Eric A Shoubridge
Frank Rutsch
Holger Thiele
Horst Robenek
Insa Buers
Jacek Majewski
Jaeseung C Kim
P2860
P2888
P304
P3181
P356
10.1038/NG.2386
P407
P577
2012-10-01T00:00:00Z
P5875
P6179
1009557310