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3-@METHYLGLUTACONIC ACIDURIA, TYPE I

Known as: 3-METHYLGLUTACONIC ACIDURIA, TYPE I, MGCA1, MGA, Type I 
 
National Institutes of Health

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Related topics

16 relations

Broader (2)

3-Methylglutaconic AciduriaInborn Errors of Metabolism
AUH, IVS8AS, G-A, -1AthetosisAutosomal recessive inheritanceCerebellar Ataxia
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Papers overview

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Highly Cited
2006
Highly Cited
2006
Target hub proteins serve as master regulators of development in yeast.
To understand the organization of the transcriptional networks that govern cell differentiation, we have investigated the… Expand
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2006
2006
3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onset
3-Methylglutaconic amino aciduria (MGA) is characterized by an increased urinary excretion of 3-methylclutaconic acid and 3… Expand
Highly Cited
2005
Highly Cited
2005
Genomewide Identification of Sko1 Target Promoters Reveals a Regulatory Network That Operates in Response to Osmotic Stress in Saccharomyces cerevisiae
ABSTRACT In Saccharomyces cerevisiae, the ATF/CREB transcription factor Sko1 (Acr1) regulates the expression of genes induced by… Expand
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Highly Cited
2004
Highly Cited
2004
Genetically heterogeneous selective intestinal malabsorption of vitamin B12: Founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East
Selective intestinal malabsorption of vitamin B12 causing juvenile megaloblastic anemia (MGA; MIM# 261100) is a recessively… Expand
Highly Cited
2004
Highly Cited
2004
Mouse amnionless, which is required for primitive streak assembly, mediates cell-surface localization and endocytic function of cubilin on visceral endoderm and kidney proximal tubules
Impaired primitive streak assembly in the mouse amnionless (amn) mutant results in the absence of non-axial trunk mesoderm, a… Expand
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Highly Cited
2003
Highly Cited
2003
Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia
The amnionless gene, Amn, on mouse chromosome 12 encodes a type I transmembrane protein that is expressed in the extraembryonic… Expand
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2003
2003
Mutations in the AUH gene cause 3‐methylglutaconic aciduria type I
The conversion of 3‐methylglutaconyl‐CoA to 3‐hydroxy‐3‐methylglutaryl‐CoA is the only step in leucine catametabolism yet to be… Expand
Highly Cited
1999
Highly Cited
1999
Mutations in CUBN, encoding the intrinsic factor-vitamin B 12 receptor, cubilin, cause hereditary megaloblastic anaemia 1
Megaloblastic anaemia 1 (MGA1, OMIM 261100) is a rare, autosomal recessive disorder characterized by juvenile megaloblastic… Expand
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Highly Cited
1998
Highly Cited
1998
Regulators of pseudohyphal differentiation in Saccharomyces cerevisiae identified through multicopy suppressor analysis in ammonium permease mutant strains.
Nitrogen-starved diploid cells of the yeast Saccharomyces cerevisiae differentiate into a filamentous, pseudohyphal growth form… Expand
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Highly Cited
1998
Highly Cited
1998
The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region.
Uptake of vitamin B12 (cyanocobalamin) is facilitated by the cobalamin-binder gastric intrinsic factor (IF), which recognizes a… Expand
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