Results 11 to 20 of about 4,962 (199)

PRODH polymorphisms, cortical volumes and thickness in schizophrenia. [PDF]

PLoS ONE, 2014
Schizophrenia is a neurodevelopmental disorder with high heritability. Several lines of evidence indicate that the PRODH gene may be related to the disorder.
Vanessa K Ota, Fernanda T Bellucco, Ary Gadelha, Marcos L Santoro, Cristiano Noto, Denise M Christofolini, Idaiane B Assunção, Karen M Yamada, Andrea K Ribeiro-dos-Santos, Sidney Santos, Jair J Mari, Marília A C Smith, Maria I Melaragno, Rodrigo A Bressan, João R Sato, Andrea P Jackowski, Sintia I Belangero   +16 more
doaj   +12 more sources

SlgA, encoded by the homolog of the human schizophrenia-associated gene PRODH, acts in clock neurons to regulate Drosophila aggression [PDF]

Disease Models & Mechanisms, 2017
Mutations in the proline dehydrogenase gene PRODH are linked to behavioral alterations in schizophrenia and as part of DiGeorge and velo-cardio-facial syndromes, but the role of PRODH in their etiology remains unclear.
Liesbeth Zwarts, Veerle Vulsteke, Edgar Buhl, James J. L. Hodge, Patrick Callaerts   +4 more
doaj   +5 more sources

Proline dehydrogenase (PRODH) gene polymorphisms and the risk of schizophrenia in Iranian populations [PDF]

The Ukrainian Biochemical Journal, 2020
Schizophrenia is a highly heritable mental disorder which can be occurred as a result of mutations or single nucleotide polymorphisms (SNPs) in various genes.
F. H. Moghadam, Z. H. A. Mehrabani, M. Amounajaf, S. Rahmanzadeh, F. Ghasemvand, A. S. Samghabadi, A. Nejadmoghaddam, E. Omidinia   +7 more
doaj   +2 more sources

P53 family members modulate the expression of PRODH, but not PRODH2, via intronic p53 response elements. [PDF]

PLoS ONE, 2013
The tumor suppressor p53 was previously shown to markedly up-regulate the expression of the PRODH gene, encoding the proline dehydrogenase (PRODH) enzyme, which catalyzes the first step in proline degradation.
Ivan Raimondi, Yari Ciribilli, Paola Monti, Alessandra Bisio, Loredano Pollegioni, Gilberto Fronza, Alberto Inga, Paola Campomenosi   +7 more
doaj   +5 more sources

Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH [PDF]

Human Genome Variation, 2021
Hyperprolinemia type I (HPI) is an autosomal recessive metabolic disorder caused by defects in proline oxidase. We herein describe a case of a patient with HPI and harboring the NM_016335.4 (PRODH_v001):c.1397 C > T (p.T466M) mutation and polymorphisms ...
Rina Hama, Jun Kido, Keishin Sugawara, Toshiro Nakamura, Kimitoshi Nakamura   +4 more
doaj   +3 more sources

Understanding the Role of Estrogen Receptor Status in PRODH/POX-Dependent Apoptosis/Survival in Breast Cancer Cells [PDF]

Biology, 2021
It has been suggested that activation of estrogen receptor α (ER α) stimulates cell proliferation. In contrast, estrogen receptor β (ER β) has anti-proliferative and pro-apoptotic activity.
Sylwia Lewoniewska, Ilona Oscilowska, Antonella Forlino, Jerzy Palka   +3 more
doaj   +4 more sources

Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses. [PDF]

PLoS Genetics, 2015
Metabolite quantitative traits carry great promise for epidemiological studies, and their genetic background has been addressed using Genome-Wide Association Studies (GWAS).
Ayşe Demirkan, Peter Henneman, Aswin Verhoeven, Harish Dharuri, Najaf Amin, Jan Bert van Klinken, Lennart C Karssen, Boukje de Vries, Axel Meissner, Sibel Göraler, Arn M J M van den Maagdenberg, André M Deelder, Peter A C 't Hoen, Cornelia M van Duijn, Ko Willems van Dijk   +14 more
doaj   +2 more sources

Connexin43 Deficiency Leads to Ventricular Arrhythmias by Reprogramming Proline Metabolism. [PDF]

Adv Sci (Weinh)
The study demonstrated that connexin43 (Cx43) knockout caused arrhythmic phenotype and decreased proline content in vitro and in vivo. Mechanistically, Cx43 interacts with the amino acid transporter SNAT2 (sodium‐dependent neutral amino acid transporter), and its deficiency disrupts proline transport and metabolism.
Ying H, Fan H, Wang Y, Jiang R, Cai D, Cheng H, Wang H, Jiang C, Liang P.   +8 more
europepmc   +2 more sources

Mexican Patients With Suspected 22q11.2 Deletion Syndrome: Clinical Characterization and Molecular Findings by Fluorescence In Situ Hybridization and Multiplex Ligation-Dependent Probe Amplification. [PDF]

Mol Genet Genomic Med
Evaluation of 80 Mexican patients with suspected 22q11.2 deletion syndrome, including detailed phenotypic characterization. Multiplex ligation‐dependent probe amplification identified both typical and atypical deletions, underscoring the need for complementary approaches to fluorescence in situ hybridization.
Aguayo-Orozco TA, Rivera H, Figuera LE, Esparza-García E, Perea-Díaz FJ, Jaloma-Cruz AR, Rizo-de la Torre LDC, Domínguez-Quezada MG.   +7 more
europepmc   +2 more sources

Functional Consequences of PRODH Missense Mutations [PDF]

The American Journal of Human Genetics, 2005
PRODH maps to 22q11 in the region deleted in the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) and encodes proline oxidase (POX), a mitochondrial inner-membrane enzyme that catalyzes the first step in the proline degradation pathway. At least 16 PRODH missense mutations have been identified in studies of type I hyperprolinemia (HPI) and ...
Bender, Hans-Ulrich, Almashanu, Shlomo, Steel, Gary, Hu, Chien-An, Lin, Wei-Wen, Willis, Alecia, Pulver, Ann, Valle, David   +7 more
openaire   +2 more sources