The lysosomal protein ABCD4 can transport vitamin B12 across liposomal membranes in vitro
K Kitai, K Kawaguchi, T Tomohiro, M Morita… - Journal of Biological …, 2021 - ASBMB
… Furthermore, we examined a series of ABCD4 missense mutations to understand how
these alterations … Mutations in ABCD4 cause a new inborn error of vitamin B 12 metabolism. …
these alterations … Mutations in ABCD4 cause a new inborn error of vitamin B 12 metabolism. …
[HTML][HTML] Vitamin B12 Metabolism: A Network of Multi-Protein Mediated Processes
P Mucha, F Kus, D Cysewski, RT Smolenski… - International Journal of …, 2024 - mdpi.com
… recessive hereditary vitamin B 12 malabsorption, mutations in … Mutations in ABCD4 and
LMBDR1 genes cause disease … individuals with inborn errors of cobalamin metabolism revealed …
LMBDR1 genes cause disease … individuals with inborn errors of cobalamin metabolism revealed …
Inherited defects of cobalamin metabolism
D Watkins, DS Rosenblatt - Vitamins and hormones, 2022 - Elsevier
… Inborn errors affecting cobalamin uptake or metabolism are … of two lysosomal membrane
proteins, ABCD4 and LMBD1. … a metabolic enzyme instead of mutations in metabolic genes …
proteins, ABCD4 and LMBD1. … a metabolic enzyme instead of mutations in metabolic genes …
Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis
A Wiedemann, A Oussalah, N Lamireau, M Theron… - Cell Reports …, 2022 - cell.com
… Inherited disorders of B 12 metabolism produce a broad spectrum of manifestations, with …
proven diagnosis of an inherited disorder of vitamin B 12 metabolism. Gene clusters and age …
proven diagnosis of an inherited disorder of vitamin B 12 metabolism. Gene clusters and age …
Causes and consequences of impaired methionine synthase activity in acquired and inherited disorders of vitamin B12 metabolism
JL Guéant, RM Guéant-Rodriguez… - Critical reviews in …, 2022 - Taylor & Francis
… involving several proteins, LMBRD1, ABCD4, MMACHC, MMADHC. Mutations in these
genes are associated with inborn errors of cobalamin metabolism. The two target enzymes are …
genes are associated with inborn errors of cobalamin metabolism. The two target enzymes are …
Vitamins: cobalamin and folate
D Watkins, CP Venditti, DS Rosenblatt - Rosenberg's Molecular and …, 2020 - Elsevier
… Inborn errors of cellular cobalamin metabolism result in … in LMBRD1 on chromosome 6q13
(cblF) and ABCD4 on chromosome … Both forms of the disorder are caused by mutations in the …
(cblF) and ABCD4 on chromosome … Both forms of the disorder are caused by mutations in the …
Transmembrane helix 6 of ABCD4 is indispensable for cobalamin transport
M Imai, K Kawaguchi, M Morita… - … of Inherited Metabolic …, 2024 - Wiley Online Library
… of the ABCD mutants. In the proteoliposome with chimeric … Cobalamin (vitamin B 12 ) cannot
be synthesized by the human … in ABCD4 lead to inborn errors in cobalamin metabolism, with …
be synthesized by the human … in ABCD4 lead to inborn errors in cobalamin metabolism, with …
The complex machinery of human cobalamin metabolism
TJ McCorvie, D Ferreira, WW Yue… - … of Inherited Metabolic …, 2023 - Wiley Online Library
… D member 4 (ABCD4, encoded by ABCD4). Disturbed function … the most frequent inborn
error of Cbl metabolism. Much akin … most prevalent disease causing missense mutation. We 55 …
error of Cbl metabolism. Much akin … most prevalent disease causing missense mutation. We 55 …
Disorders of Cobalamin and Folate Transport and Metabolism
B Fowler, DS Froese, D Watkins - Inborn Metabolic Diseases: Diagnosis …, 2022 - Springer
… of the inborn errors of Cbl metabolism requires either identification of causal mutations or …
Mutations in ABCD4, which encodes an ATP-binding cassette transporter, have been identified …
Mutations in ABCD4, which encodes an ATP-binding cassette transporter, have been identified …
Vitamin B12 Deficiency and the Nervous System: Beyond Metabolic Decompensation—Comparing Biological Models and Gaining New Insights into Molecular and …
… carry mutations associated with defects in VitB12 metabolism … proteins encoded by the
LMBRD1 and ABCD4 genes [22]. In the … and inborn errors linked to vitamin uptake/metabolism but …
LMBRD1 and ABCD4 genes [22]. In the … and inborn errors linked to vitamin uptake/metabolism but …