Literature DB >> 29789432

GATM Mutations Cause a Dominant Fibrillar Conformational Disease in Mitochondria-When Eternity Kills.

Pierre J Courtoy1, Patrick Henriet1.   

Abstract

Entities:  

Keywords:  Fanconi; conformational disease; mitochondria

Mesh：

Substances：

Year:  2018        PMID： 29789432      PMCID： PMC6050931          DOI： 10.1681/ASN.2018040450

Source DB:  PubMed          Journal:  J Am Soc Nephrol        ISSN： 1046-6673            Impact factor:   10.121


× No keyword cloud information.
  10 in total

Review 1.  Alpha1-antitrypsin deficiency--a model for conformational diseases.

Authors:  Robin W Carrell; David A Lomas
Journal:  N Engl J Med       Date:  2002-01-03       Impact factor: 91.245

2.  A familial tubular absorption defect of glucose and amino acids.

Authors:  J LUDER; W SHELDON
Journal:  Arch Dis Child       Date:  1955-04       Impact factor: 3.791

Review 3.  Mitochondrial Dynamics and Metabolic Regulation.

Authors:  Timothy Wai; Thomas Langer
Journal:  Trends Endocrinol Metab       Date:  2016-01-02       Impact factor: 12.015

4.  Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

Authors:  Markus Reichold; Enriko D Klootwijk; Joerg Reinders; Edgar A Otto; Mario Milani; Carsten Broeker; Chris Laing; Julia Wiesner; Sulochana Devi; Weibin Zhou; Roland Schmitt; Ines Tegtmeier; Christina Sterner; Hannes Doellerer; Kathrin Renner; Peter J Oefner; Katja Dettmer; Johann M Simbuerger; Ralph Witzgall; Horia C Stanescu; Simona Dumitriu; Daniela Iancu; Vaksha Patel; Monika Mozere; Mehmet Tekman; Graciana Jaureguiberry; Naomi Issler; Anne Kesselheim; Stephen B Walsh; Daniel P Gale; Alexander J Howie; Joana R Martins; Andrew M Hall; Michael Kasgharian; Kevin O'Brien; Carlos R Ferreira; Paldeep S Atwal; Mahim Jain; Alexander Hammers; Geoffrey Charles-Edwards; Chi-Un Choe; Dirk Isbrandt; Alberto Cebrian-Serrano; Ben Davies; Richard N Sandford; Christopher Pugh; David S Konecki; Sue Povey; Detlef Bockenhauer; Uta Lichter-Konecki; William A Gahl; Robert J Unwin; Richard Warth; Robert Kleta
Journal:  J Am Soc Nephrol       Date:  2018-04-13       Impact factor: 10.121

Review 5.  The role of molecular chaperones in mitochondrial protein import and folding.

Authors:  M T Ryan; D J Naylor; P B Høj; M S Clark; N J Hoogenraad
Journal:  Int Rev Cytol       Date:  1997

Review 6.  The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives.

Authors:  Stephanie Cherqui; Pierre J Courtoy
Journal:  Nat Rev Nephrol       Date:  2016-12-19       Impact factor: 28.314

7.  Multi-walled carbon nanotube induced frustrated phagocytosis, cytotoxicity and pro-inflammatory conditions in macrophages are length dependent and greater than that of asbestos.

Authors:  Matthew S P Boyles; Lesley Young; David M Brown; Laura MacCalman; Hilary Cowie; Anna Moisala; Fiona Smail; Paula J W Smith; Lorna Proudfoot; Alan H Windle; Vicki Stone
Journal:  Toxicol In Vitro       Date:  2015-06-15       Impact factor: 3.500

8.  Time course of pathogenic and adaptation mechanisms in cystinotic mouse kidneys.

Authors:  Héloïse P Gaide Chevronnay; Virginie Janssens; Patrick Van Der Smissen; Francisca N'Kuli; Nathalie Nevo; Yves Guiot; Elena Levtchenko; Etienne Marbaix; Christophe E Pierreux; Stéphanie Cherqui; Corinne Antignac; Pierre J Courtoy
Journal:  J Am Soc Nephrol       Date:  2014-02-13       Impact factor: 10.121

Review 9.  Control of mitochondrial biogenesis and function by the ubiquitin-proteasome system.

Authors:  Piotr Bragoszewski; Michal Turek; Agnieszka Chacinska
Journal:  Open Biol       Date:  2017-04       Impact factor: 6.411

10.  Cryo-EM structures of tau filaments from Alzheimer's disease.

Authors:  Anthony W P Fitzpatrick; Benjamin Falcon; Shaoda He; Alexey G Murzin; Garib Murshudov; Holly J Garringer; R Anthony Crowther; Bernardino Ghetti; Michel Goedert; Sjors H W Scheres
Journal:  Nature       Date:  2017-07-05       Impact factor: 49.962
  10 in total
  2 in total

1.  Discovery and fine-mapping of kidney function loci in first genome-wide association study in Africans.

Authors:  Segun Fatumo; Tinashe Chikowore; Robert Kalyesubula; Rebecca N Nsubuga; Gershim Asiki; Oyekanmi Nashiru; Janet Seeley; Amelia C Crampin; Dorothea Nitsch; Liam Smeeth; Pontiano Kaleebu; Stephen Burgess; Moffat Nyirenda; Nora Franceschini; Andrew P Morris; Laurie Tomlinson; Robert Newton
Journal:  Hum Mol Genet       Date:  2021-07-28       Impact factor: 6.150

2.  Polymorphism in the GATM Locus Associated with Dialysis-Independent Chronic Kidney Disease but Not Dialysis-Dependent Kidney Failure.

Authors:  Špela Šalamon; Sebastjan Bevc; Robert Ekart; Radovan Hojs; Uroš Potočnik
Journal:  Genes (Basel)       Date:  2021-05-28       Impact factor: 4.096
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.