BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

167 related articles for article (PubMed ID: 32511821)

  • 1. Subcellular diversion of cholesterol by gain- and loss-of-function mutations in PMP22.
    Zhou Y; Borchelt D; Bauson JC; Fazio S; Miles JR; Tavori H; Notterpek L
    Glia; 2020 Nov; 68(11):2300-2315. PubMed ID: 32511821
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22.
    D'Urso D; Prior R; Greiner-Petter R; Gabreëls-Festen AA; Müller HW
    J Neurosci; 1998 Jan; 18(2):731-40. PubMed ID: 9425015
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Colocalization Analysis of Peripheral Myelin Protein-22 and Lamin-B1 in the Schwann Cell Nuclei of Wt and TrJ Mice.
    Di Tomaso MV; Vázquez Alberdi L; Olsson D; Cancela S; Fernández A; Rosillo JC; Reyes Ábalos AL; Álvarez Zabaleta M; Calero M; Kun A
    Biomolecules; 2022 Mar; 12(3):. PubMed ID: 35327648
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Peripheral myelin protein 22 modulates store-operated calcium channel activity, providing insights into Charcot-Marie-Tooth disease etiology.
    Vanoye CG; Sakakura M; Follis RM; Trevisan AJ; Narayan M; Li J; Sanders CR; Carter BD
    J Biol Chem; 2019 Aug; 294(32):12054-12065. PubMed ID: 31213528
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Charcot-Marie-Tooth disease and related inherited neuropathies.
    Murakami T; Garcia CA; Reiter LT; Lupski JR
    Medicine (Baltimore); 1996 Sep; 75(5):233-50. PubMed ID: 8862346
    [TBL] [Abstract][Full Text] [Related]  

  • 6. PMP22 Regulates Cholesterol Trafficking and ABCA1-Mediated Cholesterol Efflux.
    Zhou Y; Miles JR; Tavori H; Lin M; Khoshbouei H; Borchelt DR; Bazick H; Landreth GE; Lee S; Fazio S; Notterpek L
    J Neurosci; 2019 Jul; 39(27):5404-5418. PubMed ID: 31061090
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Transport of Trembler-J mutant peripheral myelin protein 22 is blocked in the intermediate compartment and affects the transport of the wild-type protein by direct interaction.
    Tobler AR; Notterpek L; Naef R; Taylor V; Suter U; Shooter EM
    J Neurosci; 1999 Mar; 19(6):2027-36. PubMed ID: 10066256
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Exposure at the cell surface is required for gas3/PMP22 To regulate both cell death and cell spreading: implication for the Charcot-Marie-Tooth type 1A and Dejerine-Sottas diseases.
    Brancolini C; Edomi P; Marzinotto S; Schneider C
    Mol Biol Cell; 2000 Sep; 11(9):2901-14. PubMed ID: 10982389
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies.
    Naef R; Suter U
    Neurobiol Dis; 1999 Feb; 6(1):1-14. PubMed ID: 10078969
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ
    Acta Neurol Scand Suppl; 2012; (193):iv-22. PubMed ID: 23106488
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Regulation of myelin-specific gene expression. Relevance to CMT1.
    Kamholz J; Awatramani R; Menichella D; Jiang H; Xu W; Shy M
    Ann N Y Acad Sci; 1999 Sep; 883():91-108. PubMed ID: 10586235
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Many facets of the peripheral myelin protein PMP22 in myelination and disease.
    Naef R; Suter U
    Microsc Res Tech; 1998 Jun; 41(5):359-71. PubMed ID: 9672419
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Development of early postnatal peripheral nerve abnormalities in Trembler-J and PMP22 transgenic mice.
    Robertson AM; Huxley C; King RH; Thomas PK
    J Anat; 1999 Oct; 195 ( Pt 3)(Pt 3):331-9. PubMed ID: 10580849
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A.
    Haney C; Snipes GJ; Shooter EM; Suter U; Garcia C; Griffin JW; Trapp BD
    J Neuropathol Exp Neurol; 1996 Mar; 55(3):290-9. PubMed ID: 8786387
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Regulation of Schwann cell proliferation and apoptosis in PMP22-deficient mice and mouse models of Charcot-Marie-Tooth disease type 1A.
    Sancho S; Young P; Suter U
    Brain; 2001 Nov; 124(Pt 11):2177-87. PubMed ID: 11673320
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Pmp22 mutant allele-specific siRNA alleviates demyelinating neuropathic phenotype in vivo.
    Lee JS; Chang EH; Koo OJ; Jwa DH; Mo WM; Kwak G; Moon HW; Park HT; Hong YB; Choi BO
    Neurobiol Dis; 2017 Apr; 100():99-107. PubMed ID: 28108290
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Analysis of compound heterozygous mice reveals that the Trembler mutation can behave as a gain-of-function allele.
    Adlkofer K; Naef R; Suter U
    J Neurosci Res; 1997 Sep; 49(6):671-80. PubMed ID: 9335255
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pathogenesis of Charcot-Marie-Tooth 1A (CMT1A) neuropathy.
    Hanemann CO; Müller HW
    Trends Neurosci; 1998 Jul; 21(7):282-6. PubMed ID: 9683317
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice.
    Bai Y; Treins C; Volpi VG; Scapin C; Ferri C; Mastrangelo R; Touvier T; Florio F; Bianchi F; Del Carro U; Baas FF; Wang D; Miniou P; Guedat P; Shy ME; D'Antonio M
    Mol Neurobiol; 2022 Jul; 59(7):4159-4178. PubMed ID: 35501630
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A): normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecule expression in onion bulbs.
    Hanemann CO; Gabreëls-Festen AA; Stoll G; Müller HW
    Acta Neuropathol; 1997 Oct; 94(4):310-5. PubMed ID: 9341930
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.