Literature DB >> 19118816

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

Clement Y Chow1, John E Landers, Sarah K Bergren, Peter C Sapp, Adrienne E Grant, Julie M Jones, Lesley Everett, Guy M Lenk, Diane M McKenna-Yasek, Lois S Weisman, Denise Figlewicz, Robert H Brown, Miriam H Meisler.   

Abstract

Mutations of the lipid phosphatase FIG4 that regulates PI(3,5)P(2) are responsible for the recessive peripheral-nerve disorder CMT4J. We now describe nonsynonymous variants of FIG4 in 2% (9/473) of patients with amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS). Heterozygosity for a deleterious allele of FIG4 appears to be a risk factor for ALS and PLS, extending the list of known ALS genes and increasing the clinical spectrum of FIG4-related diseases.

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Year:  2009        PMID： 19118816      PMCID： PMC2668033          DOI： 10.1016/j.ajhg.2008.12.010

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  20 in total

1.  Phosphoinositides' link to neurodegeneration.

Authors:  Laura Volpicelli-Daley; Pietro De Camilli
Journal:  Nat Med       Date:  2007-07       Impact factor: 53.440

2.  Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.

Authors:  Clement Y Chow; Yanling Zhang; James J Dowling; Natsuko Jin; Maja Adamska; Kensuke Shiga; Kinga Szigeti; Michael E Shy; Jun Li; Xuebao Zhang; James R Lupski; Lois S Weisman; Miriam H Meisler
Journal:  Nature       Date:  2007-06-17       Impact factor: 49.962

3.  Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice.

Authors:  Yanling Zhang; Sergey N Zolov; Clement Y Chow; Shalom G Slutsky; Simon C Richardson; Robert C Piper; Baoli Yang; Johnathan J Nau; Randal J Westrick; Sean J Morrison; Miriam H Meisler; Lois S Weisman
Journal:  Proc Natl Acad Sci U S A       Date:  2007-10-23       Impact factor: 11.205

Review 4.  Genetics of sporadic amyotrophic lateral sclerosis.

Authors:  J C Schymick; K Talbot; B J Traynor
Journal:  Hum Mol Genet       Date:  2007-10-15       Impact factor: 6.150

5.  Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.

Authors:  Claudia Stendel; Andreas Roos; Tine Deconinck; Jorge Pereira; Francois Castagner; Axel Niemann; Janbernd Kirschner; Rudolf Korinthenberg; Uwe-Peter Ketelsen; Esra Battaloglu; Yesim Parman; Garth Nicholson; Robert Ouvrier; Jürgen Seeger; Peter De Jonghe; Joachim Weis; Alexander Krüttgen; Sabine Rudnik-Schöneborn; Carsten Bergmann; Ueli Suter; Klaus Zerres; Vincent Timmerman; João B Relvas; Jan Senderek
Journal:  Am J Hum Genet       Date:  2007-05-24       Impact factor: 11.025

6.  Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.

Authors:  Sylvain Hanein; Elodie Martin; Amir Boukhris; Paula Byrne; Cyril Goizet; Abdelmadjid Hamri; Ali Benomar; Alexander Lossos; Paola Denora; José Fernandez; Nizar Elleuch; Sylvie Forlani; Alexandra Durr; Imed Feki; Michael Hutchinson; Filippo M Santorelli; Chokri Mhiri; Alexis Brice; Giovanni Stevanin
Journal:  Am J Hum Genet       Date:  2008-04       Impact factor: 11.025

Review 7.  Genetics of familial amyotrophic lateral sclerosis.

Authors:  Paul N Valdmanis; Guy A Rouleau
Journal:  Neurology       Date:  2008-01-08       Impact factor: 9.910

8.  Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

Authors:  Xuebao Zhang; Clement Y Chow; Zarife Sahenk; Michael E Shy; Miriam H Meisler; Jun Li
Journal:  Brain       Date:  2008-06-12       Impact factor: 13.501

9.  VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse.

Authors:  Natsuko Jin; Clement Y Chow; Li Liu; Sergey N Zolov; Roderick Bronson; Muriel Davisson; Jason L Petersen; Yanling Zhang; Sujin Park; Jason E Duex; Daniel Goldowitz; Miriam H Meisler; Lois S Weisman
Journal:  EMBO J       Date:  2008-11-27       Impact factor: 11.598

10.  Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

Authors:  Emanuele Buratti; Martin Chivers; Jana Královicová; Maurizio Romano; Marco Baralle; Adrian R Krainer; Igor Vorechovsky
Journal:  Nucleic Acids Res       Date:  2007-06-18       Impact factor: 16.971
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  156 in total

Review 1.  Inhibitory synaptic regulation of motoneurons: a new target of disease mechanisms in amyotrophic lateral sclerosis.

Authors:  Lee J Martin; Qing Chang
Journal:  Mol Neurobiol       Date:  2011-11-10       Impact factor: 5.590

2.  Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4.

Authors:  Jesse J Winters; Cole J Ferguson; Guy M Lenk; Vessela I Giger-Mateeva; Peter Shrager; Miriam H Meisler; Roman J Giger
Journal:  J Neurosci       Date:  2011-11-30       Impact factor: 6.167

3.  Crystal structure of the yeast Sac1: implications for its phosphoinositide phosphatase function.

Authors:  Andrew Manford; Tian Xia; Ajay Kumar Saxena; Christopher Stefan; Fenghua Hu; Scott D Emr; Yuxin Mao
Journal:  EMBO J       Date:  2010-04-13       Impact factor: 11.598

Review 4.  Familial Amyotrophic Lateral Sclerosis.

Authors:  Kevin Boylan
Journal:  Neurol Clin       Date:  2015-09-08       Impact factor: 3.806

Review 5.  Toward precision medicine in amyotrophic lateral sclerosis.

Authors:  Zhang-Yu Zou; Chang-Yun Liu; Chun-Hui Che; Hua-Pin Huang
Journal:  Ann Transl Med       Date:  2016-01

6.  Yunis-Varón syndrome caused by biallelic VAC14 mutations.

Authors:  Matthew A Lines; Yoko Ito; Kristin D Kernohan; Wendy Mears; Julie Hurteau-Miller; Sunita Venkateswaran; Leanne Ward; Karine Khatchadourian; Jeff McClintock; Priya Bhola; Philippe M Campeau; Kym M Boycott; Jean Michaud; André Bp van Kuilenburg; Sacha Ferdinandusse; David A Dyment
Journal:  Eur J Hum Genet       Date:  2017-06-21       Impact factor: 4.246

Review 7.  Phosphatidylinositol 3,5-bisphosphate: regulation of cellular events in space and time.

Authors:  Natsuko Jin; Michael J Lang; Lois S Weisman
Journal:  Biochem Soc Trans       Date:  2016-02       Impact factor: 5.407

8.  Mouse models of PI(3,5)P2 deficiency with impaired lysosome function.

Authors:  Guy M Lenk; Miriam H Meisler
Journal:  Methods Enzymol       Date:  2014       Impact factor: 1.600

Review 9.  The Role of Sex and Sex Hormones in Neurodegenerative Diseases.

Authors:  Elisabetta Vegeto; Alessandro Villa; Sara Della Torre; Valeria Crippa; Paola Rusmini; Riccardo Cristofani; Mariarita Galbiati; Adriana Maggi; Angelo Poletti
Journal:  Endocr Rev       Date:  2020-04-01       Impact factor: 19.871

10.  A novel imaging method revealed phosphatidylinositol 3,5-bisphosphate-rich domains in the endosome/lysosome membrane.

Authors:  Sho Takatori; Toyoshi Fujimoto
Journal:  Commun Integr Biol       Date:  2016-02-22
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