Associated Papers
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
35330074 (PubMed )
Supplement: jcm-11-01749-s001.zip › Supl_Table_S2.pdf
Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.
Farris J et al.
Plos Computational Biology, 2020
Glycine decarboxylase deficiency-induced motor dysfunction in zebrafish is rescued by counterbalancing glycine synaptic level.
Riché R et al.
Jci Insight, 2018
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Coughlin CR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
Swanson MA et al.
Annals of Neurology, 2015
Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.
Narisawa A et al.
Human Molecular Genetics, 2012
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
Kure S et al.
Human Mutation, 2006
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