BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

212 related articles for article (PubMed ID: 16371353)

  • 1. A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis.
    Sher RB; Aoyama C; Huebsch KA; Ji S; Kerner J; Yang Y; Frankel WN; Hoppel CL; Wood PA; Vance DE; Cox GA
    J Biol Chem; 2006 Feb; 281(8):4938-48. PubMed ID: 16371353
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Differential expression of choline kinase isoforms in skeletal muscle explains the phenotypic variability in the rostrocaudal muscular dystrophy mouse.
    Wu G; Sher RB; Cox GA; Vance DE
    Biochim Biophys Acta; 2010 Apr; 1801(4):446-54. PubMed ID: 20026284
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Understanding the muscular dystrophy caused by deletion of choline kinase beta in mice.
    Wu G; Sher RB; Cox GA; Vance DE
    Biochim Biophys Acta; 2009 May; 1791(5):347-56. PubMed ID: 19236939
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [New congenital muscular dystrophy due to CHKB mutations].
    Nishino I
    Rinsho Shinkeigaku; 2013; 53(11):1112-3. PubMed ID: 24291895
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Functional rescue in a mouse model of congenital muscular dystrophy with megaconial myopathy.
    Sayed-Zahid AA; Sher RB; Sukoff Rizzo SJ; Anderson LC; Patenaude KE; Cox GA
    Hum Mol Genet; 2019 Aug; 28(16):2635-2647. PubMed ID: 31216357
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Animal models for muscular dystrophy show different patterns of sarcolemmal disruption.
    Straub V; Rafael JA; Chamberlain JS; Campbell KP
    J Cell Biol; 1997 Oct; 139(2):375-85. PubMed ID: 9334342
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review.
    Magri F; Antognozzi S; Ripolone M; Zanotti S; Napoli L; Ciscato P; Velardo D; Scuvera G; Nicotra V; Giacobbe A; Milani D; Fortunato F; Garbellini M; Sciacco M; Corti S; Comi GP; Ronchi D
    Skelet Muscle; 2022 Sep; 12(1):23. PubMed ID: 36175989
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mechanism of action and therapeutic route for a muscular dystrophy caused by a genetic defect in lipid metabolism.
    Tavasoli M; Lahire S; Sokolenko S; Novorolsky R; Reid SA; Lefsay A; Otley MOC; Uaesoontrachoon K; Rowsell J; Srinivassane S; Praest M; MacKinnon A; Mammoliti MS; Maloney AA; Moraca M; Pedro Fernandez-Murray J; McKenna M; Sinal CJ; Nagaraju K; Robertson GS; Hoffman EP; McMaster CR
    Nat Commun; 2022 Mar; 13(1):1559. PubMed ID: 35322809
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.
    Mitsuhashi S; Hatakeyama H; Karahashi M; Koumura T; Nonaka I; Hayashi YK; Noguchi S; Sher RB; Nakagawa Y; Manfredi G; Goto Y; Cox GA; Nishino I
    Hum Mol Genet; 2011 Oct; 20(19):3841-51. PubMed ID: 21750112
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients.
    Zemorshidi F; Nafissi S; Boostani R; Karimiani EG; Ashtiani BH; Karimzadeh P; Miryounesi M; Tonekaboni SH; Nilipour Y
    Neuromuscul Disord; 2023 Jul; 33(7):589-595. PubMed ID: 37393748
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.
    Mitsuhashi S; Ohkuma A; Talim B; Karahashi M; Koumura T; Aoyama C; Kurihara M; Quinlivan R; Sewry C; Mitsuhashi H; Goto K; Koksal B; Kale G; Ikeda K; Taguchi R; Noguchi S; Hayashi YK; Nonaka I; Sher RB; Sugimoto H; Nakagawa Y; Cox GA; Topaloglu H; Nishino I
    Am J Hum Genet; 2011 Jun; 88(6):845-851. PubMed ID: 21665002
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β.
    Mitsuhashi S; Nishino I
    Curr Opin Neurol; 2013 Oct; 26(5):536-43. PubMed ID: 23945283
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Phospholipid synthetic defect and mitophagy in muscle disease.
    Mitsuhashi S; Nishino I
    Autophagy; 2011 Dec; 7(12):1559-61. PubMed ID: 22024749
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Enhanced expression of the alpha 7 beta 1 integrin reduces muscular dystrophy and restores viability in dystrophic mice.
    Burkin DJ; Wallace GQ; Nicol KJ; Kaufman DJ; Kaufman SJ
    J Cell Biol; 2001 Mar; 152(6):1207-18. PubMed ID: 11257121
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Myotonic ADR-MDX mutant mice show less severe muscular dystrophy than MDX mice.
    Krämer R; Lochmüller H; Abicht A; Rüdel R; Brinkmeier H
    Neuromuscul Disord; 1998 Dec; 8(8):542-50. PubMed ID: 10093060
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Early embryonic lethality caused by disruption of the gene for choline kinase alpha, the first enzyme in phosphatidylcholine biosynthesis.
    Wu G; Aoyama C; Young SG; Vance DE
    J Biol Chem; 2008 Jan; 283(3):1456-1462. PubMed ID: 18029352
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers.
    Olby NJ; Sharp NJ; Anderson LV; Kunkel LM; Bönnemann CG
    Neuromuscul Disord; 2001 Jan; 11(1):41-9. PubMed ID: 11166165
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Loss of sarcolemma nNOS in sarcoglycan-deficient muscle.
    Crosbie RH; Barresi R; Campbell KP
    FASEB J; 2002 Nov; 16(13):1786-91. PubMed ID: 12409321
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Late-onset megaconial myopathy in mice lacking group I Paks.
    Joseph GA; Hung M; Goel AJ; Hong M; Rieder MK; Beckmann ND; Serasinghe MN; Chipuk JE; Devarakonda PM; Goldhamer DJ; Aldana-Hernandez P; Curtis J; Jacobs RL; Krauss RS
    Skelet Muscle; 2019 Feb; 9(1):5. PubMed ID: 30791960
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A mouse model of inherited choline kinase β-deficiency presents with specific cardiac abnormalities and a predisposition to arrhythmia.
    Tavasoli M; Feridooni T; Feridooni H; Sokolenko S; Mishra A; Lefsay A; Srinivassane S; Reid SA; Rowsell J; Praest M; MacKinnon A; Mammoliti M; Maloney AA; Moraca M; Uaesoontrachoon K; Nagaraju K; Hoffman EP; Pasumarthi KBS; McMaster CR
    J Biol Chem; 2022 Mar; 298(3):101716. PubMed ID: 35151687
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.