Coelho, David ORCID: 0000-0001-7010-5789, Kim, Jaeseung C., Miousse, Isabelle R. ORCID: 0000-0001-6543-3219, Fung, Stephen, du Moulin, Marcel, Buers, Insa, Suormala, Terttu, Burda, Patricie, Frapolli, Michele, Stucki, Martin, Nuernberg, Peter, Thiele, Holger, Robenek, Horst, Hoehne, Wolfgang, Longo, Nicola, Pasquali, Marzia, Mengel, Eugen, Watkins, David, Shoubridge, Eric A., Majewski, Jacek, Rosenblatt, David S., Fowler, Brian, Rutsch, Frank and Baumgartner, Matthias R. (2012). Mutations in ABCD4 cause a new inborn error of vitamin B-12 metabolism. Nature Genet., 44 (10). S. 1152 - 1158. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1061-4036

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Abstract

Inherited disorders of vitamin B-12 (cobalamin) have provided important clues to how this vitamin, which is essential for hematological and neurological function, is transported and metabolized. We describe a new disease that results in failure to release vitamin B-12 from lysosomes, which mimics the cblF defect caused by LMBRD1 mutations. Using microcell-mediated chromosome transfer and exome sequencing, we identified causal mutations in ABCD4, a gene that codes for an ABC transporter, which was previously thought to have peroxisomal localization and function. Our results show that ABCD4 colocalizes with the lysosomal proteins LAMP1 and LMBD1, the latter of which is deficient in the cblF defect. Furthermore, we show that mutations altering the putative ATPase domain of ABCD4 affect its function, suggesting that the ATPase activity of ABCD4 may be involved in intracellular processing of vitamin B-12.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Coelho, DavidUNSPECIFIEDorcid.org/0000-0001-7010-5789UNSPECIFIED
Kim, Jaeseung C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Miousse, Isabelle R.UNSPECIFIEDorcid.org/0000-0001-6543-3219UNSPECIFIED
Fung, StephenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
du Moulin, MarcelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buers, InsaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Suormala, TerttuUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Burda, PatricieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Frapolli, MicheleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stucki, MartinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thiele, HolgerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Robenek, HorstUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoehne, WolfgangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Longo, NicolaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pasquali, MarziaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mengel, EugenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Watkins, DavidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shoubridge, Eric A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Majewski, JacekUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rosenblatt, David S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fowler, BrianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rutsch, FrankUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Baumgartner, Matthias R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-481432
DOI: 10.1038/ng.2386
Journal or Publication Title: Nature Genet.
Volume: 44
Number: 10
Page Range: S. 1152 - 1158
Date: 2012
Publisher: NATURE PUBLISHING GROUP
Place of Publication: NEW YORK
ISSN: 1061-4036
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
C-OXIDASE DEFICIENCY; CBLD DEFECT; METHYLMALONIC ACIDURIA; PEROXISOMAL MEMBRANE; COBALAMIN METABOLISM; MASS-SPECTROMETRY; LEIGH-SYNDROME; IDENTIFICATION; PROTEIN; TRANSPORTERMultiple languages
Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/48143

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