208 related articles for article (PubMed ID: 17881734)
41. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
Willer T; Lee H; Lommel M; Yoshida-Moriguchi T; de Bernabe DB; Venzke D; Cirak S; Schachter H; Vajsar J; Voit T; Muntoni F; Loder AS; Dobyns WB; Winder TL; Strahl S; Mathews KD; Nelson SF; Moore SA; Campbell KP
Nat Genet; 2012 May; 44(5):575-80. PubMed ID: 22522420
[TBL] [Abstract][Full Text] [Related]
42. Mouse large can modify complex N- and mucin O-glycans on alpha-dystroglycan to induce laminin binding.
Patnaik SK; Stanley P
J Biol Chem; 2005 May; 280(21):20851-9. PubMed ID: 15788414
[TBL] [Abstract][Full Text] [Related]
43. Hypoglycosylation of dystroglycan due to T192M mutation: a molecular insight behind the fact.
Bhattacharya S; Das A; Ghosh S; Dasgupta R; Bagchi A
Gene; 2014 Mar; 537(1):108-14. PubMed ID: 24361964
[TBL] [Abstract][Full Text] [Related]
44. Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
Manya H; Bouchet C; Yanagisawa A; Vuillaumier-Barrot S; Quijano-Roy S; Suzuki Y; Maugenre S; Richard P; Inazu T; Merlini L; Romero NB; Leturcq F; Bezier I; Topaloglu H; Estournet B; Seta N; Endo T; Guicheney P
Neuromuscul Disord; 2008 Jan; 18(1):45-51. PubMed ID: 17869517
[TBL] [Abstract][Full Text] [Related]
45. Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene.
Lamperti C; Cagliani R; Ciscato P; Moroni I; Viri M; Romeo A; Fagiolari G; Prelle A; Comi GP; Bresolin N; Moggio M
J Neurol Sci; 2006 Apr; 243(1-2):47-51. PubMed ID: 16386759
[TBL] [Abstract][Full Text] [Related]
46. Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.
Matsumoto H; Hayashi YK; Kim DS; Ogawa M; Murakami T; Noguchi S; Nonaka I; Nakazawa T; Matsuo T; Futagami S; Campbell KP; Nishino I
Neuromuscul Disord; 2005 May; 15(5):342-8. PubMed ID: 15833426
[TBL] [Abstract][Full Text] [Related]
47. Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation.
Al-Zaidy SA; Baskin B; Hawkins C; Yoon G; Ray PN; Vajsar J
Muscle Nerve; 2012 May; 45(5):752-5. PubMed ID: 22499106
[TBL] [Abstract][Full Text] [Related]
48. Abnormal glycosylation of dystroglycan in human genetic disease.
Hewitt JE
Biochim Biophys Acta; 2009 Sep; 1792(9):853-61. PubMed ID: 19539754
[TBL] [Abstract][Full Text] [Related]
49. Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan.
Marchese M; Pappalardo A; Baldacci J; Verri T; Doccini S; Cassandrini D; Bruno C; Fiorillo C; Garcia-Gil M; Bertini E; Pitto L; Santorelli FM
Biochem Biophys Res Commun; 2016 Aug; 477(1):137-143. PubMed ID: 27291147
[TBL] [Abstract][Full Text] [Related]
50. Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy.
Rubio-Fernández M; Uribe ML; Vicente-Tejedor J; Germain F; Susín-Lara C; Quereda C; Montoliu L; de la Villa P; Martín-Nieto J; Cruces J
Sci Rep; 2018 Jun; 8(1):8543. PubMed ID: 29867208
[TBL] [Abstract][Full Text] [Related]
51. POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
Endo T; Manya H; Seta N; Guicheney P
Methods Enzymol; 2010; 479():343-52. PubMed ID: 20816175
[TBL] [Abstract][Full Text] [Related]
52. Drosophila miR-9a targets the ECM receptor Dystroglycan to canalize myotendinous junction formation.
Yatsenko AS; Shcherbata HR
Dev Cell; 2014 Feb; 28(3):335-48. PubMed ID: 24525189
[TBL] [Abstract][Full Text] [Related]
53. Neural maintenance roles for the matrix receptor dystroglycan and the nuclear anchorage complex in Caenorhabditis elegans.
Johnson RP; Kramer JM
Genetics; 2012 Apr; 190(4):1365-77. PubMed ID: 22298703
[TBL] [Abstract][Full Text] [Related]
54. Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
Bello L; Melacini P; Pezzani R; D'Amico A; Piva L; Leonardi E; Torella A; Soraru G; Palmieri A; Smaniotto G; Gavassini BF; Vianello A; Nigro V; Bertini E; Angelini C; Tosatto SC; Pegoraro E
Eur J Hum Genet; 2012 Dec; 20(12):1234-9. PubMed ID: 22549409
[TBL] [Abstract][Full Text] [Related]
55. Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of α-dystroglycan.
Kuga A; Kanagawa M; Sudo A; Chan YM; Tajiri M; Manya H; Kikkawa Y; Nomizu M; Kobayashi K; Endo T; Lu QL; Wada Y; Toda T
J Biol Chem; 2012 Mar; 287(12):9560-7. PubMed ID: 22270369
[TBL] [Abstract][Full Text] [Related]
56. HNK-1 sulfotransferase-dependent sulfation regulating laminin-binding glycans occurs in the post-phosphoryl moiety on α-dystroglycan.
Nakagawa N; Takematsu H; Oka S
Glycobiology; 2013 Sep; 23(9):1066-74. PubMed ID: 23723439
[TBL] [Abstract][Full Text] [Related]
57. New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
Yanagisawa A; Bouchet C; Van den Bergh PY; Cuisset JM; Viollet L; Leturcq F; Romero NB; Quijano-Roy S; Fardeau M; Seta N; Guicheney P
Neurology; 2007 Sep; 69(12):1254-60. PubMed ID: 17634419
[TBL] [Abstract][Full Text] [Related]
58. POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.
Kim DS; Hayashi YK; Matsumoto H; Ogawa M; Noguchi S; Murakami N; Sakuta R; Mochizuki M; Michele DE; Campbell KP; Nonaka I; Nishino I
Neurology; 2004 Mar; 62(6):1009-11. PubMed ID: 15037715
[TBL] [Abstract][Full Text] [Related]
59. Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.
van Tol W; Michelakakis H; Georgiadou E; van den Bergh P; Moraitou M; Papadimas GK; Papadopoulos C; Huijben K; Alsady M; Willemsen MA; Lefeber DJ
J Inherit Metab Dis; 2019 Sep; 42(5):984-992. PubMed ID: 30931530
[TBL] [Abstract][Full Text] [Related]
60. Aberrant glycosylation of alpha-dystroglycan and congenital muscular dystrophies.
Endo T
Acta Myol; 2005 Oct; 24(2):64-9. PubMed ID: 16550917
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]