220 related articles for article (PubMed ID: 17917119)
1. Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system.
Bolis A; Zordan P; Coviello S; Bolino A
Mol Neurobiol; 2007 Jun; 35(3):308-16. PubMed ID: 17917119
[TBL] [Abstract][Full Text] [Related]
2. Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases.
Previtali SC; Quattrini A; Bolino A
Expert Rev Mol Med; 2007 Sep; 9(25):1-16. PubMed ID: 17880751
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination.
Robinson DC; Mammel AE; Logan AM; Larson AA; Schmidt EJ; Condon AF; Robinson FL
ASN Neuro; 2018; 10():1759091418803282. PubMed ID: 30419760
[TBL] [Abstract][Full Text] [Related]
5. The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression.
Ng AA; Logan AM; Schmidt EJ; Robinson FL
Hum Mol Genet; 2013 Apr; 22(8):1493-506. PubMed ID: 23297362
[TBL] [Abstract][Full Text] [Related]
6. Distinct roles for the Charcot-Marie-Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination.
Mammel AE; Delgado KC; Chin AL; Condon AF; Hill JQ; Aicher SA; Wang Y; Fedorov LM; Robinson FL
Hum Mol Genet; 2022 Apr; 31(8):1216-1229. PubMed ID: 34718573
[TBL] [Abstract][Full Text] [Related]
7. Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy.
Guerrero-Valero M; Grandi F; Cipriani S; Alberizzi V; Di Guardo R; Chicanne G; Sawade L; Bianchi F; Del Carro U; De Curtis I; Pareyson D; Parman Y; Schenone A; Haucke V; Payrastre B; Bolino A
Proc Natl Acad Sci U S A; 2021 Mar; 118(10):. PubMed ID: 33653949
[TBL] [Abstract][Full Text] [Related]
8. Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings.
Bolis A; Coviello S; Bussini S; Dina G; Pardini C; Previtali SC; Malaguti M; Morana P; Del Carro U; Feltri ML; Quattrini A; Wrabetz L; Bolino A
J Neurosci; 2005 Sep; 25(37):8567-77. PubMed ID: 16162938
[TBL] [Abstract][Full Text] [Related]
9. Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice.
Robinson FL; Niesman IR; Beiswenger KK; Dixon JE
Proc Natl Acad Sci U S A; 2008 Mar; 105(12):4916-21. PubMed ID: 18349142
[TBL] [Abstract][Full Text] [Related]
10. Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis.
Bolino A; Bolis A; Previtali SC; Dina G; Bussini S; Dati G; Amadio S; Del Carro U; Mruk DD; Feltri ML; Cheng CY; Quattrini A; Wrabetz L
J Cell Biol; 2004 Nov; 167(4):711-21. PubMed ID: 15557122
[TBL] [Abstract][Full Text] [Related]
11. SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.
Fogarty EA; Brewer MH; Rodriguez-Molina JF; Law WD; Ma KH; Steinberg NM; Svaren J; Antonellis A
Hum Mol Genet; 2016 Sep; 25(18):3925-3936. PubMed ID: 27466180
[TBL] [Abstract][Full Text] [Related]
12. Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination.
Bolis A; Coviello S; Visigalli I; Taveggia C; Bachi A; Chishti AH; Hanada T; Quattrini A; Previtali SC; Biffi A; Bolino A
J Neurosci; 2009 Jul; 29(27):8858-70. PubMed ID: 19587293
[TBL] [Abstract][Full Text] [Related]
13. Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2.
Tersar K; Boentert M; Berger P; Bonneick S; Wessig C; Toyka KV; Young P; Suter U
Hum Mol Genet; 2007 Dec; 16(24):2991-3001. PubMed ID: 17855448
[TBL] [Abstract][Full Text] [Related]
14. Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.
Berger P; Bonneick S; Willi S; Wymann M; Suter U
Hum Mol Genet; 2002 Jun; 11(13):1569-79. PubMed ID: 12045210
[TBL] [Abstract][Full Text] [Related]
15. Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells.
Chojnowski A; Ravisé N; Bachelin C; Depienne C; Ruberg M; Brugg B; Laporte J; Baron-Van Evercooren A; LeGuern E
Neurobiol Dis; 2007 May; 26(2):323-31. PubMed ID: 17336078
[TBL] [Abstract][Full Text] [Related]
16. The CMT4B disease-causing proteins MTMR2 and MTMR13/SBF2 regulate AKT signalling.
Berger P; Tersar K; Ballmer-Hofer K; Suter U
J Cell Mol Med; 2011 Feb; 15(2):307-15. PubMed ID: 19912440
[TBL] [Abstract][Full Text] [Related]
17. Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.
Previtali SC; Zerega B; Sherman DL; Brophy PJ; Dina G; King RH; Salih MM; Feltri L; Quattrini A; Ravazzolo R; Wrabetz L; Monaco AP; Bolino A
Hum Mol Genet; 2003 Jul; 12(14):1713-23. PubMed ID: 12837694
[TBL] [Abstract][Full Text] [Related]
18. The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease.
Robinson FL; Dixon JE
J Biol Chem; 2005 Sep; 280(36):31699-707. PubMed ID: 15998640
[TBL] [Abstract][Full Text] [Related]
19. A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Pareyson D; Stojkovic T; Reilly MM; Leonard-Louis S; Laurà M; Blake J; Parman Y; Battaloglu E; Tazir M; Bellatache M; Bonello-Palot N; Lévy N; Sacconi S; Guimarães-Costa R; Attarian S; Latour P; Solé G; Megarbane A; Horvath R; Ricci G; Choi BO; Schenone A; Gemelli C; Geroldi A; Sabatelli M; Luigetti M; Santoro L; Manganelli F; Quattrone A; Valentino P; Murakami T; Scherer SS; Dankwa L; Shy ME; Bacon CJ; Herrmann DN; Zambon A; Tramacere I; Pisciotta C; Magri S; Previtali SC; Bolino A
Ann Neurol; 2019 Jul; 86(1):55-67. PubMed ID: 31070812
[TBL] [Abstract][Full Text] [Related]
20. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
Azzedine H; Bolino A; Taïeb T; Birouk N; Di Duca M; Bouhouche A; Benamou S; Mrabet A; Hammadouche T; Chkili T; Gouider R; Ravazzolo R; Brice A; Laporte J; LeGuern E
Am J Hum Genet; 2003 May; 72(5):1141-53. PubMed ID: 12687498
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
