Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
MR Baumgartner, F Hörster, C Dionisi-Vici… - Orphanet journal of rare …, 2014 - Springer
Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism
characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency …
characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency …
ABC transporters and their role in protecting insects from pesticides and their metabolites
H Merzendorfer - Advances in insect physiology, 2014 - Elsevier
Insects are frequently exposed to toxic compounds either naturally produced by host plants
to prevent feeding damage or artificially manufactured by man to control herbivores and …
to prevent feeding damage or artificially manufactured by man to control herbivores and …
A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids
CWT van Roermund, L IJlst, T Wagemans… - … et Biophysica Acta (BBA …, 2014 - Elsevier
Peroxisomes play a major role in human cellular lipid metabolism, including fatty acid β-
oxidation. Free fatty acids (FFAs) can enter peroxisomes through passive diffusion or by …
oxidation. Free fatty acids (FFAs) can enter peroxisomes through passive diffusion or by …
Analysis of 26 amino acids in human plasma by HPLC using AQC as derivatizing agent and its application in metabolic laboratory
G Sharma, SV Attri, B Behra, S Bhisikar, P Kumar… - Amino Acids, 2014 - Springer
The present study reports the simultaneous analysis of 26 physiological amino acids in
plasma along with total cysteine and homocysteine by high-performance liquid …
plasma along with total cysteine and homocysteine by high-performance liquid …
Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4
JC Deme, MA Hancock, X Xia, CA Shintre… - Molecular membrane …, 2014 - Taylor & Francis
Mutations in human LMBRD1 and ABCD4 prevent lysosomal export of vitamin B12 to the
cytoplasm, impairing the vitamin B12-dependent enzymes methionine synthase and …
cytoplasm, impairing the vitamin B12-dependent enzymes methionine synthase and …
Glutathione-dependent one-electron transfer reactions catalyzed by a B12 trafficking protein
Z Li, C Gherasim, NA Lesniak, R Banerjee - Journal of Biological Chemistry, 2014 - ASBMB
CblC is involved in an early step in cytoplasmic cobalamin processing following entry of the
cofactor into the cytoplasm. CblC converts the cobalamin cargo arriving from the lysosome to …
cofactor into the cytoplasm. CblC converts the cobalamin cargo arriving from the lysosome to …
Cobalamin C deficiency in an adolescent with altered mental status and anorexia
MH Rahmandar, A Bawcom, ME Romano… - Pediatrics, 2014 - publications.aap.org
Although cobalamin (cbl) C deficiency is the most common inherited disorder of vitamin B12
metabolism, the late-onset form of the disease can be difficult to recognize because it has a …
metabolism, the late-onset form of the disease can be difficult to recognize because it has a …
Characterization of functional domains of the cblD (MMADHC) gene product
J Jusufi, T Suormala, P Burda, B Fowler… - Journal of inherited …, 2014 - Springer
In humans vitamin B 12 (cobalamin, Cbl) must be converted into two coenzyme forms,
methylcobalamin (MeCbl) and adenosylcobalamin (AdoCbl), in order to maintain …
methylcobalamin (MeCbl) and adenosylcobalamin (AdoCbl), in order to maintain …
Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism
C Atkinson, IR Miousse, D Watkins… - JIMD Reports, Volume …, 2014 - Springer
Disorders of intracellular cobalamin (vitamin B 12) metabolism result from deficient synthesis
of the coenzymes derived from vitamin B 12: adenosylcobalamin and methylcobalamin …
of the coenzymes derived from vitamin B 12: adenosylcobalamin and methylcobalamin …
Role of NH2-terminal hydrophobic motif in the subcellular localization of ATP-binding cassette protein subfamily D: common features in eukaryotic organisms
A Lee, K Asahina, T Okamoto, K Kawaguchi… - Biochemical and …, 2014 - Elsevier
In mammals, four ATP-binding cassette (ABC) proteins belonging to subfamily D have been
identified. ABCD1–3 possesses the NH 2-terminal hydrophobic region and are targeted to …
identified. ABCD1–3 possesses the NH 2-terminal hydrophobic region and are targeted to …