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Akademický článek

Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report

Autor: Maria Blomqvist, Karin Ahlberg, Julia Lindgren, Sacha Ferdinandusse, Jorge Asin-Cayuela

Publikováno v: Journal of Medical Case Reports, Vol 11, Iss 1, Pp 1-6 (2017)

Abstract Background The peroxisome biogenesis disorders, which are caused by mutations in any of 13 different PEX genes, include the Zellweger spectrum disorders. Severe defects in one of these PEX genes result in the absence of functional peroxisome

Externí odkaz: https://doaj.org/article/af77a797fb08458ba9724a7e3c62f380

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iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations

Autor: Søren W Gersting, Caroline C. Friedel, Philipp Guder, Stephan Kemp, Anja Schultze, Julian M Klingbeil, Amelie S. Lotz-Havla, Ania C. Muntau, Ralf Zimmer, Ralf Erdmann, Ana-Maria Bulau, Mathias Woidy, Ilona Dahmen, Heidi Noll-Puchta

Publikováno v: Journal of proteome research, 20(9), 4366-4380. American Chemical Society

Mapping the network of proteins provides a powerful means to investigate the function of disease genes and to unravel the molecular basis of phenotypes. We present an automated informatics-aided and bioluminescence resonance energy transfer-based app

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95ad52d8470a060cc81d7c785d0d7557
https://doi.org/10.1021/acs.jproteome.1c00330

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A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder

Autor: Elena L. Dadali, Andrey V. Marakhonov, Natalia N. Taran, Natalia A. Semenova, Marina V. Kurkina, Tatyana V. Strokova

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100754-(2021)

Background Peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive disorders that affect multiple organ systems. Approximately 80% of PBD patients are classifiedin the Zellweger syndrome spectrum, which is generally cau

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::149a851f424be03c670ca58a67af266c
http://www.sciencedirect.com/science/article/pii/S2214426921000483

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Akademický článek

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Akademický článek

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Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders

Autor: Fei-Xia Zhan, Yan Wang, Yang-Qi Xu, Xing-wang Song, Li Cao, Wo-Tu Tian, Chao Zhang, Ze-Yu Zhu

Publikováno v: Clinical Neurology and Neurosurgery. 177:92-96

Objectives To describe the clinical and genetic features of a Chinese peroxisome biogenesis disorder 6B patient with PEX10 mutations and review PEX10–related peroxisomal disorders. Patients and methods The proband is a 7-year-old boy with mild ment

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e35dd6cfb07ff77e1b65c62054704079
https://doi.org/10.1016/j.clineuro.2019.01.004

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High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

Autor: Sylvain Vergnet, Jean Phillipe Azulay, Isabelle Meunier, Audrey Riquet, Olivier Patat, Anna Castrioto, Laurent Pasquier, Cyril Charlin, Lena Damaj, Cécile Acquaviva, Nicolas Lebouc, Bérénice Doray, Cecilia Marelli, Morgane Pointaux, Pierre Meyer, Perrine Charles, Danielle Cuntz-Shadfar, Caroline Tillikete, Frederic Villega, Cathy Lieutard-Haag, Michel Koenig, François Rivier, Idriss Bousquet, Ganaëlle Remerand, Ulrike Walther-Louvier, Clarisse Carra-Dalliere, Victoria Gonzales, Alexandre Eusebio, Brigitte Chabrol, Emilie Carme, Pierre Labauge, Adrian Degardin, Elise Brischoux-Boucher, Brice Laurens, Laurent Kremer, Giovanni Castelnovo, Mélanie Fradin, Mehdi Benkirane, Karine Nguyen, Jean-Marie Ravel, Vincent Laugel, Emilien Bernard, Claire Guissart, Cyril Goizet, Samira Sissaoui, Agathe Roubertie, Christine Francannet, Sylvie Odent, Yosra Halleb, Xavier Ayrignac, Shahram Attarian, Fabienne Ory Magne, David Geneviève, Joel Victor Fluss, Alain Verloes, Anne Rolland, Martial Mallaret, Lydia Abou Haidar, Nadia Bahi-Buisson, David Baux, Catherine Sarret, Nicolas Carrière, Christine Coubes, Mathilde Renaud, Claire Ewenczyk, Patrick Calvas, Solène Frismand, Leila Lazaro, Bertrand Isidor, Annabelle Chaussenot, Sophie Julia, Valerie Fraix, Elsa Kaphan, Tatiana Witjas, Frédérique Fluchère, Mathieu Anheim, Christine Tranchant, William Camu, Eric Thouvenot, Lise Larrieu, Eric Bieth, Ariane Choumert, Raoul Morales, Marinha Costa Moreira, Elizabeth Ollagnon

Publikováno v: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-021-01250-6⟩
Genetics in Medicine, Nature Publishing Group, 2021, ⟨10.1038/s41436-021-01250-6⟩

International audience; Purpose: Diagnosis of inherited ataxia and related diseases represents a real challenge given the tremendous heterogeneity and clinical overlap of the various causes. We evaluated the efficacy of molecular diagnosis of these d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::babfbeb68f31ca6afb2b34ab5e5a2e4e
https://hal.archives-ouvertes.fr/hal-03282716

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