'Chemical co-substrate rescue' of phytanoyl-CoA 2-hydroxylase mutants causing Refsum's Disease

'Chemical co-substrate rescue' of phytanoyl-CoA 2-hydroxylase mutants causing Refsum's Disease

The in vitro catalytic activity of two clinically observed mutants of phytanoyl-CoA 2-hydroxylase, an iron(II)/2-oxoglutarate-dependent oxygenase causing Refsum's Disease, was partially rescued by the use of alternatives to the natural cosubstrate, 2-oxoglutarate; this is the first demonstratio...

Deskribapen osoa

Xehetasun bibliografikoak
Egile Nagusiak:	Mukherji, M, Kershaw, N, MacKinnon, C, Clifton, I, Wierzbicki, A, Schofield, C, Lloyd, MD
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	2001

Antzeko izenburuak

Unnatural co-substrate-based rescue of enzyme activity in Refsum's disease resulting from mutations in R275 of phytanoyl-CoA hydroxylase.
nork: Lloyd, MD, et al.
Argitaratua: (2000)

Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease.
nork: Mukherji, M, et al.
Argitaratua: (2001)

Studies on phytanoyl-CoA 2-hydroxylase and synthesis of phytanoyl-coenzyme A.
nork: Kershaw, N, et al.
Argitaratua: (2001)

Role of phytanoyl-CoA 2-hydroxylase in phytanic acid metabolism.
nork: Lloyd, MD, et al.
Argitaratua: (2003)

Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease.
nork: McDonough, M, et al.
Argitaratua: (2005)

Utilization of sterol carrier protein-2 by phytanoyl-CoA 2-hydroxylase in the peroxisomal alpha oxidation of phytanic acid.
nork: Mukherji, M, et al.
Argitaratua: (2002)

Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase
nork: Veerle Foulon, et al.
Argitaratua: (2003-12-01)

Studies on the specificity of unprocessed and mature forms of phytanoyl-CoA 2-hydroxylase and mutation of the iron binding ligands.
nork: Searls, T, et al.
Argitaratua: (2005)

Studies on the specificity of unprocessed and mature forms of phytanoyl-CoA 2-hydroxylase and mutation of the iron binding ligands
nork: Timothy Searls, et al.
Argitaratua: (2005-08-01)

Structural and mechanistic studies on the peroxisomal oxygenase phytanoyl-CoA 2-hydroxylase (PhyH).
nork: Schofield, C, et al.
Argitaratua: (2007)

Crystal structure of PHYHD1A, a 2OG oxygenase related to phytanoyl-CoA hydroxylase.
nork: Zhang, Z, et al.
Argitaratua: (2011)

Phytanoyl-CoA hydroxylase: recognition of 3-methyl-branched acyl-CoAs and requirement for GTP or ATP and Mg2+ in addition to its known hydroxylation cofactors
nork: Kathleen Croes, et al.
Argitaratua: (2000-04-01)

Phytanoyl-CoA hydroxylase from rat liver: protein purification and cDNA cloning with implications for the subcellular localization of phytanic acid α-oxidation
nork: Gerbert A. Jansen, et al.
Argitaratua: (1999-12-01)

Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
nork: Wierzbicki, A, et al.
Argitaratua: (2002)

Phytanic acid oxidation: topographical localization of phytanoyl-CoA ligase and transport of phytanic acid into human peroxisomes.
nork: K Pahan, et al.
Argitaratua: (1995-05-01)

Infantile Refsum Disease
nork: J Gordon Millichap
Argitaratua: (1988-03-01)

Genetic testing for Refsum disease
nork: Abeshi Andi, et al.
Argitaratua: (2017-10-01)

Metabolism of phytanic acid and 3-methyl-adipic acid excretion in patients with adult Refsum disease
nork: Anthony S. Wierzbicki, et al.
Argitaratua: (2003-08-01)

Exploring the substrate selectivity of oxygen sensing prolyl hydroxylases
nork: Lippl, K, et al.
Argitaratua: (2015)

Studies on the link between HMG-CoA reductase and cholesterol 7 alpha-hydroxylase in rat liver.
nork: I Björkhem, et al.
Argitaratua: (1988-02-01)

Structural basis for expanded substrate specificities of human long chain acyl-CoA dehydrogenase and related acyl-CoA dehydrogenases
nork: Beena Narayanan, et al.
Argitaratua: (2024-06-01)

Conventional and advanced MR imaging in infantile Refsum disease
nork: Mustafa Kılıç, et al.
Argitaratua: (2015-06-01)

Studies on the selectivity of proline hydroxylases reveal new substrates including bicycles
nork: Smart, TJ, et al.
Argitaratua: (2019)

Rescue of Mutant CFTR Channel Activity by Investigational Co-Potentiator Therapy
nork: Mafalda Bacalhau, et al.
Argitaratua: (2025-01-01)

Alteration of the co-substrate selectivity of deacetoxycephalosporin C synthase. The role of arginine 258.
nork: Lee, H, et al.
Argitaratua: (2001)

Use of methylmalonyl‐CoA epimerase in enhancing crotonase stereoselectivity
nork: Hamed, R, et al.
Argitaratua: (2015)

Pseudomonas aeruginosa acyl-CoA dehydrogenases and structure-guided inversion of their substrate specificity
nork: Meng Wang, et al.
Argitaratua: (2025-03-01)

Dilated cardiomyopathy revealing Refsum disease: a case report
nork: Salim Arous, et al.
Argitaratua: (2024-09-01)

Absorption of chlorophyll phytol in normal man and in patients with Refsum's disease
nork: James H. Baxter
Argitaratua: (1968-09-01)

Loss of stearoyl-CoA desaturase 1 rescues cardiac function in obese leptin-deficient mice
nork: Pawel Dobrzyn, et al.
Argitaratua: (2010-08-01)

Separate peroxisomal oxidases for fatty acyl-CoAs and trihydroxycoprostanoyl-CoA in human liver
nork: M Casteels, et al.
Argitaratua: (1990-10-01)

Improved synthesis of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA)
nork: A.I. Louw, et al.
Argitaratua: (1969-11-01)

The sterol substrate specificity of acyl CoA: :cholesterol acyltransferase from rat liver.
nork: D M Tavani, et al.
Argitaratua: (1982-07-01)

Stimulation of HMG-CoA reductase as a consequence of phenobarbital-induced primary stimulation of cholesterol 7 alpha-hydroxylase in rat liver.
nork: E Sudjana-Sugiaman, et al.
Argitaratua: (1994-02-01)

Refsum disease: a defect in the alpha-oxidation of phytanic acid in peroxisomes
nork: I Singh, et al.
Argitaratua: (1993-10-01)

Acetyl-CoA synthetase (ACSS2) does not generate butyryl- and crotonyl-CoA
nork: Nour Zeaiter, et al.
Argitaratua: (2024-03-01)

Metabolism of acetyl-CoA by isolated peroxisomal fractions: formation of acetate and acetoacetyl-CoA.
nork: R Hovik, et al.
Argitaratua: (1991-06-01)

Screening Phosphorylation Site Mutations in Yeast Acetyl-CoA Carboxylase Using Malonyl-CoA Sensor to Improve Malonyl-CoA-Derived Product
nork: Xiaoxu Chen, et al.
Argitaratua: (2018-01-01)

Substrate selectivity of prolyl hydroxylases
nork: McDonough, M
Argitaratua: (2018)

Studies on the substrate selectivity of the hypoxia-inducible factor prolyl hydroxylase 2 catalytic domain
nork: Abboud, M, et al.
Argitaratua: (2018)