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Article

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.

Journal of inherited metabolic disease - 1 Jun 2011

Kretz Rita, Bozorgmehr Bita, Kariminejad Mohamad Hasan, Rohrbach Marianne, Hausser Ingrid, Baumer Alessandra, Baumgartner Matthias, Giunta Cecilia, Kariminejad Ariana, Häberle Johannes

Abstract excerpt

Pyrroline-5-carboxylate reductase 1 (PYCR1) catalyzes the last step in proline synthesis. Deficiency of PYCR1, caused by a defect in PYCR1, was recently described in patients with cutis laxa, intrauterine growth retardation, developmental dysplasia of the hips and mental retardation. In this paper, we describe additional six patients (ages ranging from 4 months to 55 years) from four Iranian families with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21487760
DOI: 10.1007/s10545-011-9319-3

Genes

PYCR1

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Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.PMID 21487760Read ↗

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.Semantic proximity Read ↗

Mutations in PYCR1 cause cutis laxa with progeroid features.Semantic proximity Read ↗

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.Semantic proximity Read ↗

Genetic analysis of Pycr1 and Pycr2 in mice.Semantic proximity Read ↗

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.Semantic proximity Read ↗

Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.Semantic proximity Read ↗

Confirming the enzymatic activity and neurodevelopmental trajectory of PYCR1 mutation in one child with autosomal-recessive cutis laxa type 2.Semantic proximity Read ↗

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.Semantic proximity Read ↗

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).Semantic proximity Read ↗

Resolving the cofactor-binding site in the proline biosynthetic enzyme human pyrroline-5-carboxylate reductase 1.Semantic proximity Read ↗

A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.Semantic proximity Read ↗

Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature.Semantic proximity Read ↗

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