Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
Menao S et al.
Human Mutation, 2009
Molecular genetics of HMG-CoA lyase deficiency.
Pié J et al.
Molecular Genetics and Metabolism, 2007
Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria.
Fu Z et al.
The Journal of Biological Chemistry, 2006
The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency.
Cardoso ML et al.
Molecular Genetics and Metabolism, 2004
Molecular basis of 3-hydroxy-3-methylglutaric aciduria.
Pie J et al.
Journal of Physiology and Biochemistry, 2003
Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria.
Pospísilová E et al.
Journal of Inherited Metabolic Disease, 2003
HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.
Mitchell GA et al.
American Journal of Human Genetics, 1998
Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine 233 as an active site residue.
Roberts JR et al.
The Journal of Biological Chemistry, 1996
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