Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1

Megaloblastic anemia presenting with skin hyperpigmentation

(2016) Eleftheria Hatzimichael et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system

(2016) Patricie Burda et al.   JOURNAL OF INHERITED METABOLIC DISEASE

SSIEM 2016 Annual Symposium - Abstracts

(2016)   JOURNAL OF INHERITED METABOLIC DISEASE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Mechanistic diversity in ATP-binding cassette (ABC) transporters

(2016) Kaspar P Locher   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Mechanistic diversity in ATP-binding cassette (ABC) transporters

(2016) Kaspar P Locher   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1

(2016) Kosuke Kawaguchi et al.   Scientific Reports

Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ)

(2015) T. Takeichi et al.   BRITISH JOURNAL OF DERMATOLOGY

Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12Trafficking

(2015) D. Sean Froese et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Role of NH2-terminal hydrophobic motif in the subcellular localization of ATP-binding cassette protein subfamily D: Common features in eukaryotic organisms

(2014) Asaka Lee et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Characterization of functional domains of the cblD (MMADHC) gene product

(2014) Jehona Jusufi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The Intraviral Protein Interaction Network of Hepatitis C Virus

(2014) Nicole Hagen et al.   MOLECULAR & CELLULAR PROTEOMICS

Purification and interaction analyses of two human lysosomal vitamin B12transporters: LMBD1 and ABCD4

(2014) Justin C. Deme et al.   MOLECULAR MEMBRANE BIOLOGY

Cellular uptake of cobalamin: Transcobalamin and the TCblR/CD320 receptor

(2013) Edward V. Quadros et al.   BIOCHIMIE

LMBD1 Protein Serves as a Specific Adaptor for Insulin Receptor Internalization

(2013) Linda Tzu-Ling Tseng et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

An Extended Proteome Map of the Lysosomal Membrane Reveals Novel Potential Transporters

(2013) Agnès Chapel et al.   MOLECULAR & CELLULAR PROTEOMICS

A Patient With an Inborn Error of Vitamin B12 Metabolism (cblF) Detected by Newborn Screening

(2013) C. M. Armour et al.   PEDIATRICS

Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencing

(2012) Jaeseung C. Kim et al.   MOLECULAR GENETICS AND METABOLISM

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

(2012) David Coelho et al.   NATURE GENETICS

Eighteen-year follow-up of a patient with cobalamin F disease (cblF): Report and review

(2011) Majid Alfadhel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cobalamin F Disease Detected by Newborn Screening and Follow-up on a 14-Year-Old Patient

(2011) O. Oladipo et al.   PEDIATRICS

Characterizing the interaction between the Rab6 GTPase and Mint3 via flow cytometry based FRET analysis

(2010) Anika Thyrock et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Genetic disorders of vitamin B12 metabolism: eight complementation groups – eight genes

(2010) D. Sean Froese et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

Structures of the Human GTPase MMAA and Vitamin B12-dependent Methylmalonyl-CoA Mutase and Insight into Their Complex Formation

(2010) D. Sean Froese et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A novel mutation in LMBRD1 causes the cblF defect of vitamin B12 metabolism in a Turkish patient

(2010) Susann Gailus et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A Flow Cytometry-Based FRET Assay to Identify and Analyse Protein-Protein Interactions in Living Cells

(2010) Carina Banning et al.   PLoS One

The tinker, tailor, soldier in intracellular B12 trafficking

(2009) Ruma Banerjee et al.   CURRENT OPINION IN CHEMICAL BIOLOGY

Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product

(2009) Luciana Hannibal et al.   MOLECULAR GENETICS AND METABOLISM

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

(2009) Frank Rutsch et al.   NATURE GENETICS

A G-protein editor gates coenzyme B12 loading and is corrupted in methylmalonic aciduria

(2009) D. Padovani et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

70-kDa peroxisomal membrane protein related protein (P70R/ABCD4) localizes to endoplasmic reticulum not peroxisomes, and NH2-terminal hydrophobic property determines the subcellular localization of ABC subfamily D proteins

(2008) Yoshinori Kashiwayama et al.   EXPERIMENTAL CELL RESEARCH

Adenosyltransferase tailors and delivers coenzyme B12

(2008) Dominique Padovani et al.   Nature Chemical Biology

SUR1: a unique ATP-binding cassette protein that functions as an ion channel regulator

(2008) J. Aittoniemi et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Decyanation of vitamin B12 by a trafficking chaperone

(2008) J. Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA