Výsledky vyhledávání - "ATIC DEFICIENCY"

Akademický článek

The CRISPR-Cas9 crATIC HeLa transcriptome: Characterization of a novel cellular model of ATIC deficiency and ZMP accumulation

Autor: Randall C. Mazzarino, Veronika Baresova, Marie Zikánová, Nathan Duval, Terry G. Wilkinson, II, David Patterson, Guido N. Vacano

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100642- (2020)

In de novo purine biosynthesis (DNPS), 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (EC 2.1.2.3)/inosine monophosphate cyclohydrolase (EC 3.5.4.10) (ATIC) catalyzes the last two reactions of the pathway: conversion of 5-aminoimidaz

Externí odkaz: https://doaj.org/article/9d371210153f41a2a86d1a26c04d6739

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AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case

Autor: Francis Ramond, Irène Ceballos, Paul Kuentz, Sandrine Marie, Kareen Billiemaz, Bénédicte Héron, Marie-Françoise Vincent, Marlène Rio, Monique Piraud, Anne-Sophie Denommé-Pichon, Renaud Touraine, Apolline Imbard

Publikováno v: Journal of inherited metabolic diseaseREFERENCES. 43(6)

5-Amino-4-imidazolecarboxamide-ribosiduria (AICA)-ribosiduria is an exceedingly rare autosomal recessive condition resulting from the disruption of the bifunctional purine biosynthesis protein PURH (ATIC), which catalyzes the last two steps of de nov

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::199e8b68384227c6da3dfd704f873251
https://pubmed.ncbi.nlm.nih.gov/32557644

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Akademický článek

AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.

Autor: Ramond F; Service de Génétique, CHU-Hôpital Nord, Saint-Etienne, France., Rio M; Institut Imagine, Paris, France.; Inserm U781, Hôpital Necker-Enfants Malades, Paris, France., Héron B; Service de Neurologie Pédiatrique, Hôpital Armand-Trousseau, APHP et GRC No. 19, Universités Sorbonne, UPMC 06, Paris, France., Imbard A; Biochemistry Hormonology Laboratory, Robert-Debré University Hospital, APHP, Paris, France.; LIPSYS, Faculty of pharmacy, Paris Saclay University, Chatenay-Malabry, France., Marie S; Laboratoire des Maladies Métaboliques, Cliniques Universitaires Saint-Luc, Bruxelles, Belgium., Billiemaz K; Service de Réanimation Pédiatrique, CHU-Hôpital Nord, Saint-Étienne, France., Denommé-Pichon AS; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Laboratoire de Génétique Moléculaire, UF Innovation en Diagnostic Génomique des Maladies Rares, Plateau Technique de Biologie, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), Centre Hospitalier Universitaire de Dijon et Université de Bourgogne-Franche Comté, Dijon, France.; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, Dijon, France., Kuentz P; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), Centre Hospitalier Universitaire de Dijon et Université de Bourgogne-Franche Comté, Dijon, France.; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, Dijon, France.; Génétique Biologique, PCBio, Centre Hospitalier Universitaire de Besançon, Besançon, France., Ceballos I; Metabolic Biochemistry Department, Necker Hospital, APHP, Paris, France., Piraud M; Unité Maladies Héréditaires du Métabolisme, Service de Biochimie et Biologie Moléculaire Grand Est, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Lyon, France., Vincent MF; Laboratoire des Maladies Métaboliques, Cliniques Universitaires Saint-Luc, Bruxelles, Belgium., Touraine R; Service de Génétique, CHU-Hôpital Nord, Saint-Etienne, France.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2020 Nov; Vol. 43 (6), pp. 1254-1264. Date of Electronic Publication: 2020 Jul 09.

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Expanding the spectrum of clinical severity of AICA ‐ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in ATIC gene

Autor: Jessica Galli, Enza Maria Valente, Joseph Dewulf, Alessandra Franzoni, Sandrine Marie, Massimo Plumari, Federica Zanetti, Elisa Fazzi

Publikováno v: American Journal of Medical Genetics Part A, (2023)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ed1a3a793f87828f286833075b2ecb9
https://doi.org/10.1002/ajmg.a.63036

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Akademický článek

5-Aminoimidazole-4-carboxamide ribonucleotide formyltransferase/inosine monophosphate cyclohydrolase promotes pulmonary arterial smooth muscle cell proliferation via the Ras signaling pathway.

Autor: Xiaofan Shi, Qian Ma, Yuqing Huo, Yunchao Su

Publikováno v: American Journal of Physiology: Cell Physiology; Oct2024, Vol. 327 Issue 4, pC901-C912, 12p

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Akademický článek

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Akademický článek

Integrated network pharmacology and metabolomics to explore the mechanisms of Shenzao dripping pill against chronic myocardial ischemia.

Autor: Jie-Hui Kuang^1,2,3, Tao Hu^1,2,3, Lu-Yong Zhang^1,4, Yu-Feng Yao^1,2,3 yaoyufeng@gdpu.edu.cn, Ming-Hua Xian^1,2,3 xmh360@163.com, Shu-Mei Wang^1,2,3,5 gdpuwsm@126.com

Publikováno v: Traditional Medicine Research. Nov2024, Vol. 9 Issue 11, p1-15. 15p.

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Report

Expanding the spectrum of clinical severity of AICA-ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in ATIC gene.

Autor: Galli J; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy., Valente EM; Department of Molecular Medicine, University of Pavia and Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Dewulf J; Laboratoire des Maladies Métaboliques Héréditaires/Biochimie Génétique et Centre de Dépistage Néonatal, Cliniques Universitaires Saint-Luc, Brussels, Belgium., Franzoni A; Department of Neurological and Vision Sciences, ASST Spedali Civili of Brescia, Brescia, Italy., Marie S; Laboratoire des Maladies Métaboliques Héréditaires/Biochimie Génétique et Centre de Dépistage Néonatal, Cliniques Universitaires Saint-Luc, Brussels, Belgium., Plumari M; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Zanetti F; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Fazzi E; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Feb; Vol. 191 (2), pp. 575-581. Date of Electronic Publication: 2022 Nov 11.

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