An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
HC Yu, JL Sloan, G Scharer, A Brebner… - The American Journal of …, 2013 - cell.com
Derivatives of vitamin B 12 (cobalamin) are essential cofactors for enzymes required in
intermediary metabolism. Defects in cobalamin metabolism lead to disorders characterized …
intermediary metabolism. Defects in cobalamin metabolism lead to disorders characterized …
Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities
AM Quintana, HC Yu, A Brebner… - Human molecular …, 2017 - academic.oup.com
CblX (MIM309541) is an X-linked recessive disorder characterized by defects in cobalamin
(vitamin B12) metabolism and other developmental defects. Mutations in HCFC1, a …
(vitamin B12) metabolism and other developmental defects. Mutations in HCFC1, a …
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin‐Bound Cobalamin and Mutations in ZNF143, Which Codes …
M Pupavac, D Watkins, F Petrella… - Human …, 2016 - Wiley Online Library
ABSTRACT Vitamin B12 (cobalamin, Cbl) cofactors adenosylcobalamin (AdoCbl) and
methylcobalamin (MeCbl) are required for the activity of the enzymes methylmalonyl‐CoA …
methylcobalamin (MeCbl) are required for the activity of the enzymes methylmalonyl‐CoA …
Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder
M Gérard, G Morin, A Bourillon, C Colson… - European Journal of …, 2015 - Elsevier
The cobalamin type C deficiency is a rare condition that results from impaired biosynthesis
of both methylcobalamin (MeCbl) and adenosylcobalamin (AdoCbl). Hemizygous mutations …
of both methylcobalamin (MeCbl) and adenosylcobalamin (AdoCbl). Hemizygous mutations …
The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans
L Hannibal, PM DiBello, M Yu, A Miller, S Wang… - Molecular genetics and …, 2011 - Elsevier
Abstract Cobalamin (Cbl, B 12) is an essential micronutrient required to fulfill the enzymatic
reactions of cytosolic methylcobalamin-dependent methionine synthase and mitochondrial …
reactions of cytosolic methylcobalamin-dependent methionine synthase and mitochondrial …
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain
Both gain-and loss-of-function mutations have recently implicated HCFC1 in
neurodevelopmental disorders. Here, we extend our previous HCFC1 over-expression …
neurodevelopmental disorders. Here, we extend our previous HCFC1 over-expression …
Inborn errors of cobalamin absorption and metabolism
D Watkins, DS Rosenblatt - … Journal of Medical Genetics Part C …, 2011 - Wiley Online Library
Derivatives of cobalamin (vitamin B12) are required for activity of two enzymes in humans.
Adenosylcobalamin is required for activity of mitochondrial methylmalonylCoA mutase and …
Adenosylcobalamin is required for activity of mitochondrial methylmalonylCoA mutase and …
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
Inborn errors of vitamin B12 (cobalamin) metabolism are characterized by decreased
production of active cobalamin cofactors and subsequent deficiencies in the activities of …
production of active cobalamin cofactors and subsequent deficiencies in the activities of …
A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder
C Koufaris, A Alexandrou, GA Tanteles… - Biomedical …, 2016 - spandidos-publications.com
Abstract Approximately 10-15% of intellectual disability (ID) cases are caused by genetic
aberrations affecting chromosome X, a condition termed X‑linked ID (XLID). Examination by …
aberrations affecting chromosome X, a condition termed X‑linked ID (XLID). Examination by …
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
JP Lerner-Ellis, JC Tirone, PD Pawelek, C Doré… - Nature …, 2006 - nature.com
Methylmalonic aciduria and homocystinuria, cblC type (OMIM 277400), is the most common
inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases. Affected …
inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases. Affected …