BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

227 related articles for article (PubMed ID: 26594138)

  • 1. Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein.
    Martinez-Carrera LA; Wirth B
    Front Neurosci; 2015; 9():401. PubMed ID: 26594138
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.
    Neveling K; Martinez-Carrera LA; Hölker I; Heister A; Verrips A; Hosseini-Barkooie SM; Gilissen C; Vermeer S; Pennings M; Meijer R; te Riele M; Frijns CJ; Suchowersky O; MacLaren L; Rudnik-Schöneborn S; Sinke RJ; Zerres K; Lowry RB; Lemmink HH; Garbes L; Veltman JA; Schelhaas HJ; Scheffer H; Wirth B
    Am J Hum Genet; 2013 Jun; 92(6):946-54. PubMed ID: 23664116
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development.
    Martinez Carrera LA; Gabriel E; Donohoe CD; Hölker I; Mariappan A; Storbeck M; Uhlirova M; Gopalakrishnan J; Wirth B
    Hum Mol Genet; 2018 May; 27(10):1772-1784. PubMed ID: 29528393
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.
    Rossor AM; Oates EC; Salter HK; Liu Y; Murphy SM; Schule R; Gonzalez MA; Scoto M; Phadke R; Sewry CA; Houlden H; Jordanova A; Tournev I; Chamova T; Litvinenko I; Zuchner S; Herrmann DN; Blake J; Sowden JE; Acsadi G; Rodriguez ML; Menezes MP; Clarke NF; Auer Grumbach M; Bullock SL; Muntoni F; Reilly MM; North KN
    Brain; 2015 Feb; 138(Pt 2):293-310. PubMed ID: 25497877
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.
    Peeters K; Litvinenko I; Asselbergh B; Almeida-Souza L; Chamova T; Geuens T; Ydens E; Zimoń M; Irobi J; De Vriendt E; De Winter V; Ooms T; Timmerman V; Tournev I; Jordanova A
    Am J Hum Genet; 2013 Jun; 92(6):955-64. PubMed ID: 23664119
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy.
    Rossor AM; Sleigh JN; Groves M; Muntoni F; Reilly MM; Hoogenraad CC; Schiavo G
    Acta Neuropathol Commun; 2020 Mar; 8(1):34. PubMed ID: 32183910
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel
    Tumurkhuu M; Batbuyan U; Yuzawa S; Munkhsaikhan Y; Batmunkh G; Nishimura W
    Intractable Rare Dis Res; 2021 May; 10(2):102-108. PubMed ID: 33996355
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.
    Oates EC; Rossor AM; Hafezparast M; Gonzalez M; Speziani F; MacArthur DG; Lek M; Cottenie E; Scoto M; Foley AR; Hurles M; Houlden H; Greensmith L; Auer-Grumbach M; Pieber TR; Strom TM; Schule R; Herrmann DN; Sowden JE; Acsadi G; Menezes MP; Clarke NF; Züchner S; ; Muntoni F; North KN; Reilly MM
    Am J Hum Genet; 2013 Jun; 92(6):965-73. PubMed ID: 23664120
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Disease-associated mutations in human BICD2 hyperactivate motility of dynein-dynactin.
    Huynh W; Vale RD
    J Cell Biol; 2017 Oct; 216(10):3051-3060. PubMed ID: 28883039
    [TBL] [Abstract][Full Text] [Related]  

  • 10. BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy.
    Kropatsch R; Schmidt HM; Buttkereit P; Epplen JT; Hoffjan S
    Muscle Nerve; 2019 Apr; 59(4):484-486. PubMed ID: 30536747
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2.
    Yoshioka M; Morisada N; Toyoshima D; Yoshimura H; Nishio H; Iijima K; Takeshima Y; Uehara T; Kosaki K
    Brain Dev; 2018 Apr; 40(4):343-347. PubMed ID: 29273277
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.
    Koboldt DC; Waldrop MA; Wilson RK; Flanigan KM
    Ann Neurol; 2020 Apr; 87(4):487-496. PubMed ID: 32057122
    [TBL] [Abstract][Full Text] [Related]  

  • 13. SMALED2 with BICD2 gene mutations: Report of two cases and portrayal of a classical phenotype.
    Picher-Martel V; Morin C; Brunet D; Dionne A
    Neuromuscul Disord; 2020 Aug; 30(8):669-673. PubMed ID: 32709491
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Reconstitution of the targeting of Rab6A to the Golgi apparatus in semi-intact HeLa cells: A role of BICD2 in stabilizing Rab6A on Golgi membranes and a concerted role of Rab6A/BICD2 interactions in Golgi-to-ER retrograde transport.
    Matsuto M; Kano F; Murata M
    Biochim Biophys Acta; 2015 Oct; 1853(10 Pt A):2592-609. PubMed ID: 25962623
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.
    Unger A; Dekomien G; Güttsches A; Dreps T; Kley R; Tegenthoff M; Ferbert A; Weis J; Heyer C; Linke WA; Martinez-Carrera L; Storbeck M; Wirth B; Hoffjan S; Vorgerd M
    Neurology; 2016 Nov; 87(21):2235-2243. PubMed ID: 27784775
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Bicaudal-D regulates COPI-independent Golgi-ER transport by recruiting the dynein-dynactin motor complex.
    Matanis T; Akhmanova A; Wulf P; Del Nery E; Weide T; Stepanova T; Galjart N; Grosveld F; Goud B; De Zeeuw CI; Barnekow A; Hoogenraad CC
    Nat Cell Biol; 2002 Dec; 4(12):986-92. PubMed ID: 12447383
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.
    Rudnik-Schöneborn S; Deden F; Eggermann K; Eggermann T; Wieczorek D; Sellhaus B; Yamoah A; Goswami A; Claeys KG; Weis J; Zerres K
    Muscle Nerve; 2016 Sep; 54(3):496-500. PubMed ID: 26998597
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mammalian Golgi-associated Bicaudal-D2 functions in the dynein-dynactin pathway by interacting with these complexes.
    Hoogenraad CC; Akhmanova A; Howell SA; Dortland BR; De Zeeuw CI; Willemsen R; Visser P; Grosveld F; Galjart N
    EMBO J; 2001 Aug; 20(15):4041-54. PubMed ID: 11483508
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant.
    Yamamoto K; Ohashi K; Fujimoto M; Ieda D; Nakamura Y; Hattori A; Kaname T; Ieda K; Nishino I; Saitoh S
    Brain Dev; 2022 Sep; 44(8):578-582. PubMed ID: 35527075
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Cytoplasmic dynein and its regulatory proteins in Golgi pathology in nervous system disorders.
    Jaarsma D; Hoogenraad CC
    Front Neurosci; 2015; 9():397. PubMed ID: 26578860
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.