Disease on EC 1.5.1.2 - pyrroline-5-carboxylate reductase

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DISEASE
TITLE OF PUBLICATION
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22q11 Deletion Syndrome
Functional polymorphisms in PRODH are associated with risk and protection for schizophrenia and fronto-striatal structure and function.
Acidosis, Lactic
Regulation of proline oxidase activity by lactate.
Adenocarcinoma
Human colon tumors: enzymic and histological characteristics.
Adenocarcinoma of Lung
Kindlin-2 links mechano-environment to proline synthesis and tumor growth.
P5CR1 protein expression and the effect of gene-silencing on lung adenocarcinoma.
Secreted phosphoprotein 1 upstream invasive network construction and analysis of lung adenocarcinoma compared with human normal adjacent tissues by integrative biocomputation.
Agenesis of Corpus Callosum
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
Alopecia
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Bone Diseases, Metabolic
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2.
Zebrafish Carrying pycr1 Gene Deficiency Display Aging and Multiple Behavioral Abnormalities.
Breast Neoplasms
?IIb?3-integrin Ligands: Abciximab and Eptifibatide as Proapoptotic Factors in MCF-7 Human Breast Cancer Cells.
Human mitochondrial pyrroline-5-carboxylate reductase 1 promotes invasiveness and impacts survival in breast cancers.
Pyrroline-5-Carboxylate Reductase 1 Accelerates the Migration and Invasion of Nonsmall Cell Lung Cancer In Vitro.
Pyrroline-5-carboxylate reductase 1 promotes proliferation and inhibits apoptosis in non-small cell lung cancer.
Tumour-specific proline vulnerability uncovered by differential ribosome codon reading.
Carcinogenesis
Knockdown of PYCR1 inhibits cell proliferation and colony formation via cell cycle arrest and apoptosis in prostate cancer.
Proline oxidase induces apoptosis in tumor cells, and its expression is frequently absent or reduced in renal carcinomas.
PYCR1 promotes the progression of non-small-cell lung cancer under the negative regulation of miR-488.
Carcinoma
Differential gene expression in p53-mediated apoptosis-resistant vs. apoptosis-sensitive tumor cell lines.
Proline oxidase induces apoptosis in tumor cells, and its expression is frequently absent or reduced in renal carcinomas.
PYCR1 is Associated with Papillary Renal Cell Carcinoma Progression.
The clinical significance of PYCR1 expression in renal cell carcinoma.
The p53-induced gene-6 (proline oxidase) mediates apoptosis through a calcineurin-dependent pathway.
Carcinoma, Non-Small-Cell Lung
Pyrroline-5-Carboxylate Reductase 1 Accelerates the Migration and Invasion of Nonsmall Cell Lung Cancer In Vitro.
Pyrroline-5-carboxylate reductase 1 promotes proliferation and inhibits apoptosis in non-small cell lung cancer.
Carcinoma, Renal Cell
Proline oxidase induces apoptosis in tumor cells, and its expression is frequently absent or reduced in renal carcinomas.
PYCR1 is Associated with Papillary Renal Cell Carcinoma Progression.
The clinical significance of PYCR1 expression in renal cell carcinoma.
Colorectal Neoplasms
Proline oxidase, a p53-induced gene, targets COX-2/PGE2 signaling to induce apoptosis and inhibit tumor growth in colorectal cancers.
Congenital Disorders of Glycosylation
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Cutis Laxa
A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.
A Transcriptome Study of Progeroid Neurocutaneous Syndrome Reveals POSTN As a New Element in Proline Metabolic Disorder.
Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing.
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.
Cutis Laxa Type II with Mutation in the Pyrroline-5-Carboxylate Reductase 1 Gene.
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.
Effect of the R119G mutation on human P5CR structure and its interactions with NAD: Insights derived from molecular dynamics simulation and free energy analysis.
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
In silico screening, molecular docking, and molecular dynamics studies of SNP-derived human P5CR mutants.
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.
Mutations in PYCR1 cause cutis laxa with progeroid features.
Mutations In PYCR1 Gene In Three Families With Autosomal Recessive Cutis Laxa, Type 2.
Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations.
Resolving the Cofactor Binding Site in the Proline Biosynthetic Enzyme Human Pyrroline-5-Carboxylate Reductase 1.
Sublethal endoplasmic reticulum stress caused by the mutation of immunoglobulin heavy chain-binding protein induces the synthesis of a mitochondrial protein, pyrroline-5-carboxylate reductase 1.
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2.
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Zebrafish Carrying pycr1 Gene Deficiency Display Aging and Multiple Behavioral Abnormalities.
Dehydration
Comparative study of enzymes related to proline metabolism in tepary bean (Phaseolus acutifolius) and common bean (Phaseolus vulgaris) under drought and irrigated conditions, and various urea concentrations.
Growth, biochemical modifications and proline metabolism in Helianthus annuus L. as induced by drought stress.
Oxidation of Proline by Mitochondria Isolated from Water-Stressed Maize Shoots.
Fascioliasis
Proline in fascioliasis: I. Comparative activities of ornithine-delta-transaminase and proline oxidase in Fasciola and in mammalian livers.
Fetal Growth Retardation
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.
Glioblastoma
Proline oxidase controls proline, glutamate, and glutamine cellular concentrations in a U87 glioblastoma cell line.
glutamate-5-semialdehyde dehydrogenase deficiency
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Granuloma
Proline trapping in granulomas, the site of collagen biosynthesis in murine schistosomiasis.
Schistosoma mansoni: higher free proline levels in the livers of infected mice.
Hypersensitivity
PYCR1 and PYCR2 Interact and Collaborate with RRM2B to Protect Cells from Overt Oxidative Stress.
Infections
Knockdown of PYCR1 inhibits cell proliferation and colony formation via cell cycle arrest and apoptosis in prostate cancer.
Intellectual Disability
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.
Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability.
Sublethal endoplasmic reticulum stress caused by the mutation of immunoglobulin heavy chain-binding protein induces the synthesis of a mitochondrial protein, pyrroline-5-carboxylate reductase 1.
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2.
Zebrafish Carrying pycr1 Gene Deficiency Display Aging and Multiple Behavioral Abnormalities.
Joint Instability
Zebrafish Carrying pycr1 Gene Deficiency Display Aging and Multiple Behavioral Abnormalities.
Kidney Neoplasms
miR-23b targets proline oxidase, a novel tumor suppressor protein in renal cancer.
Tumour-specific proline vulnerability uncovered by differential ribosome codon reading.
Lung Neoplasms
PYCR1 promotes the progression of non-small-cell lung cancer under the negative regulation of miR-488.
Pyrroline-5-Carboxylate Reductase 1 Accelerates the Migration and Invasion of Nonsmall Cell Lung Cancer In Vitro.
Pyrroline-5-carboxylate reductase 1 promotes proliferation and inhibits apoptosis in non-small cell lung cancer.
Lymphoma
The effect of lymphoma and other neoplasms on hepatic and plasma enzymes of the host rat.
Megalencephaly
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Melanoma
Pyrroline-5-carboxylate reductase 1 promotes cell proliferation via inhibiting apoptosis in human malignant melanoma.
Meningitis
Crystal structures of delta1-pyrroline-5-carboxylate reductase from human pathogens Neisseria meningitides and Streptococcus pyogenes.
Menkes Kinky Hair Syndrome
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Microcephaly
Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.
Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations.
Response to Kouwenberg et al. "Recognizable Phenotype With Common Occurrence of Microcephaly, Psychomotor Retardation, But No Spontaneous Bone Fractures in ARCL2B Due to PYCR1 Mutations".
Neoplasm Metastasis
Pyrroline-5-Carboxylate Reductase 1 Accelerates the Migration and Invasion of Nonsmall Cell Lung Cancer In Vitro.
The clinical significance of PYCR1 expression in renal cell carcinoma.
Neoplasms
A fragment-like approach to PYCR1 inhibition.
Human colon tumors: enzymic and histological characteristics.
Human mitochondrial pyrroline-5-carboxylate reductase 1 promotes invasiveness and impacts survival in breast cancers.
Identification of Alternative Splicing and Fusion Transcripts in Non-Small Cell Lung Cancer by RNA Sequencing.
Identification of novel androgen receptor target genes in prostate cancer.
Kindlin-2 links mechano-environment to proline synthesis and tumor growth.
Knockdown of PYCR1 inhibits cell proliferation and colony formation via cell cycle arrest and apoptosis in prostate cancer.
Mechano-regulation of proline metabolism and cancer progression by kindlin-2.
miR-23b targets proline oxidase, a novel tumor suppressor protein in renal cancer.
MYC regulation of glutamine-proline regulatory axis is key in luminal B breast cancer.
PPARgamma and Proline Oxidase in Cancer.
Proline metabolism and cancer.
Proline Metabolism and Microenvironmental Stress.
Proline Oxidase (POX) as A Target for Cancer Therapy.
Proline oxidase functions as a mitochondrial tumor suppressor in human cancers.
Proline oxidase induces apoptosis in tumor cells, and its expression is frequently absent or reduced in renal carcinomas.
Proline oxidase promotes tumor cell survival in hypoxic tumor microenvironments.
Proline oxidase, a p53-induced gene, targets COX-2/PGE2 signaling to induce apoptosis and inhibit tumor growth in colorectal cancers.
PYCR1 is Associated with Papillary Renal Cell Carcinoma Progression.
Pyrroline-5-Carboxylate Reductase 1 Accelerates the Migration and Invasion of Nonsmall Cell Lung Cancer In Vitro.
Pyrroline-5-carboxylate reductase 1 promotes cell proliferation via inhibiting apoptosis in human malignant melanoma.
Pyrroline-5-carboxylate reductase 1 promotes proliferation and inhibits apoptosis in non-small cell lung cancer.
Reprogramming of proline and glutamine metabolism contributes to the proliferative and metabolic responses regulated by oncogenic transcription factor c-MYC.
Resolving the Cofactor Binding Site in the Proline Biosynthetic Enzyme Human Pyrroline-5-Carboxylate Reductase 1.
SIRT3 regulates cancer cell proliferation through deacetylation of PYCR1 in proline metabolism.
The clinical significance of PYCR1 expression in renal cell carcinoma.
The effect of lymphoma and other neoplasms on hepatic and plasma enzymes of the host rat.
The p53-induced gene-6 (proline oxidase) mediates apoptosis through a calcineurin-dependent pathway.
The undifferentiated enzymic composition of human fetal lung and pulmonary tumors.
Tumour-specific proline vulnerability uncovered by differential ribosome codon reading.
Obesity
Proline Metabolism and Microenvironmental Stress.
Pancreatitis
Clusterin and Pycr1 alterations associate with strain and model differences in susceptibility to experimental pancreatitis.
Prognathism
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2.
Prostatic Neoplasms
Knockdown of PYCR1 inhibits cell proliferation and colony formation via cell cycle arrest and apoptosis in prostate cancer.
Pyrroline-5-Carboxylate Reductase 1 Accelerates the Migration and Invasion of Nonsmall Cell Lung Cancer In Vitro.
Pyrroline-5-carboxylate reductase 1 promotes proliferation and inhibits apoptosis in non-small cell lung cancer.
pyrroline-5-carboxylate reductase deficiency
Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene.
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.
Disease of ornithine-proline pathway: a delta 1-pyrroline-5-carboxylate reductase deficiency in the retina or retinal degeneration mice.
Disease of the ornithine-proline pathway: delta 1-pyrroline-5-carboxylate reductase deficiency in the retina of retinal degeneration mice.
Identification of PRODH Mutations in Korean Neonates with Type I Hyperprolinemia.
Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation.
Retinal Degeneration
Disease of ornithine-proline pathway: a delta 1-pyrroline-5-carboxylate reductase deficiency in the retina or retinal degeneration mice.
Disease of the ornithine-proline pathway: delta 1-pyrroline-5-carboxylate reductase deficiency in the retina of retinal degeneration mice.
Scoliosis
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Starvation
Effects of cortisol or starvation on the activities of four enzymes in small intestine and liver of the rat during development.
Lack of a regulatory function for glutamine synthetase protein in the synthesis of glutamate dehydrogenase and nitrite reductase in Escherichia coli K12.
Molecular characterization of the proline-1 (pro-1) locus of Neurospora crassa, which encodes delta 1-pyrroline-5-carboxylate reductase.
transaldolase deficiency
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Tuberculosis
Purification and characterization of a functionally active Mycobacterium tuberculosis pyrroline-5-carboxylate reductase.