Associated Papers
Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.
Brand F et al.
Acta Neuropathologica, 2026
41546701 (PubMed )
Supplement: 401_2025_2972_MOESM1_ESM.pdf
Structural and mechanistic studies on the peroxisomal oxygenase phytanoyl-CoA 2-hydroxylase (PhyH).
Schofield CJ et al.
Biochemical Society Transactions, 2007
Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease.
McDonough MA et al.
The Journal of Biological Chemistry, 2005
Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
Jansen GA et al.
Human Mutation, 2004
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
Wierzbicki AS et al.
Journal of Neurochemistry, 2002
Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease.
Mukherji M et al.
Human Molecular Genetics, 2001
Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.
Jansen GA et al.
Human Molecular Genetics, 2000
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