BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

230 related articles for article (PubMed ID: 21655088)

  • 1. Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.
    Lenk GM; Ferguson CJ; Chow CY; Jin N; Jones JM; Grant AE; Zolov SN; Winters JJ; Giger RJ; Dowling JJ; Weisman LS; Meisler MH
    PLoS Genet; 2011 Jun; 7(6):e1002104. PubMed ID: 21655088
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4.
    Winters JJ; Ferguson CJ; Lenk GM; Giger-Mateeva VI; Shrager P; Meisler MH; Giger RJ
    J Neurosci; 2011 Nov; 31(48):17736-51. PubMed ID: 22131434
    [TBL] [Abstract][Full Text] [Related]  

  • 3. ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth 4J disorder.
    Ikonomov OC; Sbrissa D; Fligger J; Delvecchio K; Shisheva A
    J Biol Chem; 2010 Aug; 285(35):26760-26764. PubMed ID: 20630877
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.
    Nicholson G; Lenk GM; Reddel SW; Grant AE; Towne CF; Ferguson CJ; Simpson E; Scheuerle A; Yasick M; Hoffman S; Blouin R; Brandt C; Coppola G; Biesecker LG; Batish SD; Meisler MH
    Brain; 2011 Jul; 134(Pt 7):1959-71. PubMed ID: 21705420
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade.
    Gentil BJ; O'Ferrall E; Chalk C; Santana LF; Durham HD; Massie R
    J Neuropathol Exp Neurol; 2017 Sep; 76(9):789-799. PubMed ID: 28859335
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies.
    Vaccari I; Dina G; Tronchère H; Kaufman E; Chicanne G; Cerri F; Wrabetz L; Payrastre B; Quattrini A; Weisman LS; Meisler MH; Bolino A
    PLoS Genet; 2011 Oct; 7(10):e1002319. PubMed ID: 22028665
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration.
    Ferguson CJ; Lenk GM; Jones JM; Grant AE; Winters JJ; Dowling JJ; Giger RJ; Meisler MH
    Hum Mol Genet; 2012 Aug; 21(16):3525-34. PubMed ID: 22581779
    [TBL] [Abstract][Full Text] [Related]  

  • 8. AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse model.
    Presa M; Bailey RM; Davis C; Murphy T; Cook J; Walls R; Wilpan H; Bogdanik L; Lenk GM; Burgess RW; Gray SJ; Lutz C
    J Clin Invest; 2021 Jun; 131(11):. PubMed ID: 33878035
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene.
    Lenk GM; Frei CM; Miller AC; Wallen RC; Mironova YA; Giger RJ; Meisler MH
    Hum Mol Genet; 2016 Jan; 25(2):340-7. PubMed ID: 26604144
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.
    Vaccari I; Carbone A; Previtali SC; Mironova YA; Alberizzi V; Noseda R; Rivellini C; Bianchi F; Del Carro U; D'Antonio M; Lenk GM; Wrabetz L; Giger RJ; Meisler MH; Bolino A
    Hum Mol Genet; 2015 Jan; 24(2):383-96. PubMed ID: 25187576
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination.
    Hu B; McCollum M; Ravi V; Arpag S; Moiseev D; Castoro R; Mobley B; Burnette B; Siskind C; Day J; Yawn R; Feely S; Li Y; Yan Q; Shy M; Li J
    Ann Neurol; 2018 Apr; 83(4):756-770. PubMed ID: 29518270
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Severe Consequences of SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J.
    Shisheva A; Sbrissa D; Hu B; Li J
    Mol Neurobiol; 2019 Dec; 56(12):8656-8667. PubMed ID: 31313076
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Protective role of the lipid phosphatase Fig4 in the adult nervous system.
    Mironova YA; Lin JP; Kalinski AL; Huffman LD; Lenk GM; Havton LA; Meisler MH; Giger RJ
    Hum Mol Genet; 2018 Jul; 27(14):2443-2453. PubMed ID: 29688489
    [TBL] [Abstract][Full Text] [Related]  

  • 14. FIG4 regulates lysosome membrane homeostasis independent of phosphatase function.
    Bharadwaj R; Cunningham KM; Zhang K; Lloyd TE
    Hum Mol Genet; 2016 Feb; 25(4):681-92. PubMed ID: 26662798
    [TBL] [Abstract][Full Text] [Related]  

  • 15. FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.
    Zimmermann M; Schuster S; Boesch S; Korenke GC; Mohr J; Reichbauer J; Kernstock C; Kotzot D; Spahlinger V; Schüle-Freyer R; Schöls L
    Parkinsonism Relat Disord; 2020 May; 74():6-11. PubMed ID: 32268254
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.
    Lafontaine M; Lia AS; Bourthoumieu S; Beauvais-Dzugan H; Derouault P; Arné-Bes MC; Sarret C; Laffargue F; Magot A; Sturtz F; Magy L; Magdelaine C
    Ann Clin Transl Neurol; 2021 Feb; 8(2):471-476. PubMed ID: 33405357
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
    Chow CY; Zhang Y; Dowling JJ; Jin N; Adamska M; Shiga K; Szigeti K; Shy ME; Li J; Zhang X; Lupski JR; Weisman LS; Meisler MH
    Nature; 2007 Jul; 448(7149):68-72. PubMed ID: 17572665
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants.
    Cao X; Lenk GM; Mikusevic V; Mindell JA; Meisler MH
    PLoS Genet; 2023 Jun; 19(6):e1010800. PubMed ID: 37363915
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease.
    Edgar JR; Ho AK; Laurá M; Horvath R; Reilly MM; Luzio JP; Roberts RC
    Acta Neuropathol Commun; 2020 Oct; 8(1):165. PubMed ID: 33059769
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Adeno-associated virus gene therapy to the rescue for Charcot-Marie-Tooth disease type 4J.
    Svaren J
    J Clin Invest; 2021 Jun; 131(11):. PubMed ID: 34060476
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.