257 related articles for article (PubMed ID: 27807076)
1. A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.
Servián-Morilla E; Takeuchi H; Lee TV; Clarimon J; Mavillard F; Area-Gómez E; Rivas E; Nieto-González JL; Rivero MC; Cabrera-Serrano M; Gómez-Sánchez L; Martínez-López JA; Estrada B; Márquez C; Morgado Y; Suárez-Calvet X; Pita G; Bigot A; Gallardo E; Fernández-Chacón R; Hirano M; Haltiwanger RS; Jafar-Nejad H; Paradas C
EMBO Mol Med; 2016 Nov; 8(11):1289-1309. PubMed ID: 27807076
[TBL] [Abstract][Full Text] [Related]
2. POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.
Servián-Morilla E; Cabrera-Serrano M; Johnson K; Pandey A; Ito A; Rivas E; Chamova T; Muelas N; Mongini T; Nafissi S; Claeys KG; Grewal RP; Takeuchi M; Hao H; Bönnemann C; Lopes Abath Neto O; Medne L; Brandsema J; Töpf A; Taneva A; Vilchez JJ; Tournev I; Haltiwanger RS; Takeuchi H; Jafar-Nejad H; Straub V; Paradas C
Acta Neuropathol; 2020 Mar; 139(3):565-582. PubMed ID: 31897643
[TBL] [Abstract][Full Text] [Related]
3. A form of muscular dystrophy associated with pathogenic variants in JAG2.
Coppens S; Barnard AM; Puusepp S; Pajusalu S; Õunap K; Vargas-Franco D; Bruels CC; Donkervoort S; Pais L; Chao KR; Goodrich JK; England EM; Weisburd B; Ganesh VS; Gudmundsson S; O'Donnell-Luria A; Nigul M; Ilves P; Mohassel P; Siddique T; Milone M; Nicolau S; Maroofian R; Houlden H; Hanna MG; Quinlivan R; Beiraghi Toosi M; Ghayoor Karimiani E; Costagliola S; Deconinck N; Kadhim H; Macke E; Lanpher BC; Klee EW; Łusakowska A; Kostera-Pruszczyk A; Hahn A; Schrank B; Nishino I; Ogasawara M; El Sherif R; Stojkovic T; Nelson I; Bonne G; Cohen E; Boland-Augé A; Deleuze JF; Meng Y; Töpf A; Vilain C; Pacak CA; Rivera-Zengotita ML; Bönnemann CG; Straub V; Handford PA; Draper I; Walter GA; Kang PB
Am J Hum Genet; 2021 May; 108(5):840-856. PubMed ID: 33861953
[TBL] [Abstract][Full Text] [Related]
4. Protein O-Glucosyltransferase 1 Expression Influences Formation of Differentiated Myotubes in C2C12 Cell Line.
Pélisse M; Der Vartanian A; Germot A; Maftah A
DNA Cell Biol; 2018 Apr; 37(4):359-372. PubMed ID: 29634421
[TBL] [Abstract][Full Text] [Related]
5. Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi).
Wu J; Hunt SD; Matthias N; Servián-Morilla E; Lo J; Jafar-Nejad H; Paradas C; Darabi R
Stem Cell Res; 2017 Oct; 24():102-105. PubMed ID: 29034878
[TBL] [Abstract][Full Text] [Related]
6. Notch signaling deficiency underlies age-dependent depletion of satellite cells in muscular dystrophy.
Jiang C; Wen Y; Kuroda K; Hannon K; Rudnicki MA; Kuang S
Dis Model Mech; 2014 Aug; 7(8):997-1004. PubMed ID: 24906372
[TBL] [Abstract][Full Text] [Related]
7. Brief report: Blockade of Notch signaling in muscle stem cells causes muscular dystrophic phenotype and impaired muscle regeneration.
Lin S; Shen H; Jin B; Gu Y; Chen Z; Cao C; Hu C; Keller C; Pear WS; Wu L
Stem Cells; 2013 Apr; 31(4):823-8. PubMed ID: 23307608
[TBL] [Abstract][Full Text] [Related]
8. The Notch signaling pathway in skeletal muscle health and disease.
Vargas-Franco D; Kalra R; Draper I; Pacak CA; Asakura A; Kang PB
Muscle Nerve; 2022 Nov; 66(5):530-544. PubMed ID: 35968817
[TBL] [Abstract][Full Text] [Related]
9. Diseases related to Notch glycosylation.
Matsumoto K; Luther KB; Haltiwanger RS
Mol Aspects Med; 2021 Jun; 79():100938. PubMed ID: 33341260
[TBL] [Abstract][Full Text] [Related]
10. Disease modeling and gene correction of LGMDR21 iPSCs elucidates the role of POGLUT1 in skeletal muscle maintenance, regeneration, and the satellite cell niche.
Ortiz-Vitali JL; Wu J; Xu N; Shieh AW; Niknejad N; Takeuchi M; Paradas C; Lin C; Jafar-Nejad H; Haltiwanger RS; Wang SH; Darabi R
Mol Ther Nucleic Acids; 2023 Sep; 33():683-697. PubMed ID: 37650119
[TBL] [Abstract][Full Text] [Related]
11. Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies.
Ganassi M; Muntoni F; Zammit PS
Exp Cell Res; 2022 Feb; 411(1):112906. PubMed ID: 34740639
[TBL] [Abstract][Full Text] [Related]
12. TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
Larson AA; Baker PR; Milev MP; Press CA; Sokol RJ; Cox MO; Lekostaj JK; Stence AA; Bossler AD; Mueller JM; Prematilake K; Tadjo TF; Williams CA; Sacher M; Moore SA
Skelet Muscle; 2018 May; 8(1):17. PubMed ID: 29855340
[TBL] [Abstract][Full Text] [Related]
13. Autologous intramuscular transplantation of engineered satellite cells induces exosome-mediated systemic expression of Fukutin-related protein and rescues disease phenotype in a murine model of limb-girdle muscular dystrophy type 2I.
Frattini P; Villa C; De Santis F; Meregalli M; Belicchi M; Erratico S; Bella P; Raimondi MT; Lu Q; Torrente Y
Hum Mol Genet; 2017 Oct; 26(19):3682-3698. PubMed ID: 28666318
[TBL] [Abstract][Full Text] [Related]
14. Reduced Notch signalling leads to postnatal skeletal muscle hypertrophy in Pofut1cax/cax mice.
Al Jaam B; Heu K; Pennarubia F; Segelle A; Magnol L; Germot A; Legardinier S; Blanquet V; Maftah A
Open Biol; 2016 Sep; 6(9):. PubMed ID: 27628322
[TBL] [Abstract][Full Text] [Related]
15. Direct effects of the pathogenic mutation on satellite cell function in muscular dystrophy.
Morgan JE; Zammit PS
Exp Cell Res; 2010 Nov; 316(18):3100-8. PubMed ID: 20546725
[TBL] [Abstract][Full Text] [Related]
16. Alterations in Notch signalling in skeletal muscles from mdx and dko dystrophic mice and patients with Duchenne muscular dystrophy.
Church JE; Trieu J; Chee A; Naim T; Gehrig SM; Lamon S; Angelini C; Russell AP; Lynch GS
Exp Physiol; 2014 Apr; 99(4):675-87. PubMed ID: 24443351
[TBL] [Abstract][Full Text] [Related]
17. Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B.
Park YE; Hayashi YK; Goto K; Komaki H; Hayashi Y; Inuzuka T; Noguchi S; Nonaka I; Nishino I
Neuromuscul Disord; 2009 Jan; 19(1):29-36. PubMed ID: 19070492
[TBL] [Abstract][Full Text] [Related]
18. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
Longman C; Brockington M; Torelli S; Jimenez-Mallebrera C; Kennedy C; Khalil N; Feng L; Saran RK; Voit T; Merlini L; Sewry CA; Brown SC; Muntoni F
Hum Mol Genet; 2003 Nov; 12(21):2853-61. PubMed ID: 12966029
[TBL] [Abstract][Full Text] [Related]
19. Stage-specific effects of Notch activation during skeletal myogenesis.
Bi P; Yue F; Sato Y; Wirbisky S; Liu W; Shan T; Wen Y; Zhou D; Freeman J; Kuang S
Elife; 2016 Sep; 5():. PubMed ID: 27644105
[TBL] [Abstract][Full Text] [Related]
20. Notch3 null mutation in mice causes muscle hyperplasia by repetitive muscle regeneration.
Kitamoto T; Hanaoka K
Stem Cells; 2010 Dec; 28(12):2205-16. PubMed ID: 20960513
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]