201 related articles for article (PubMed ID: 31769567)
1. Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy.
Galimberti V; Tironi R; Lerario A; Scali M; Del Bo R; Rodolico C; Brizzi T; Gibertini S; Maggi L; Mora M; Toscano A; Comi GP; Sciacco M; Moggio M; Peverelli L
Eur J Neurol; 2020 Apr; 27(4):709-715. PubMed ID: 31769567
[TBL] [Abstract][Full Text] [Related]
2. Progressive myopathy in an inducible mouse model of oculopharyngeal muscular dystrophy.
Mankodi A; Wheeler TM; Shetty R; Salceies KM; Becher MW; Thornton CA
Neurobiol Dis; 2012 Jan; 45(1):539-46. PubMed ID: 21964252
[TBL] [Abstract][Full Text] [Related]
3. Oculopharyngeal muscular dystrophy: phenotypic and genotypic characteristics of 9 Polish patients.
Nadaj-Pakleza A; Richard P; Lusakowska A; Gajewska J; Jamrozik Z; Kostera-Pruszczyk A; Kwieciński H; Kamińska A
Neurol Neurochir Pol; 2009; 43(2):113-20. PubMed ID: 19484687
[TBL] [Abstract][Full Text] [Related]
4. Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy.
Roth F; Dhiab J; Boulinguiez A; Mouigni HR; Lassche S; Negroni E; Muraine L; Marhic A; Oliver A; Lainé J; Rouche A; O'Ferrall EK; van Engelen B; Ottenheijm C; Greif H; Blumen S; Lacau St Guily J; Perie S; Butler-Browne G; Mouly V; Trollet C
Acta Neuropathol; 2022 Dec; 144(6):1157-1170. PubMed ID: 36197469
[TBL] [Abstract][Full Text] [Related]
5. Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy.
van der Sluijs BM; Raz V; Lammens M; van den Heuvel LP; Voermans NC; van Engelen BG
J Neuromuscul Dis; 2016 Mar; 3(1):101-109. PubMed ID: 27854203
[TBL] [Abstract][Full Text] [Related]
6. The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy.
Lin F; Yang K; Lin MT; Zheng FZ; Chen L; Ding YL; Ye ZX; Lin X; Wang N; Wang ZQ
Ann Clin Transl Neurol; 2023 Mar; 10(3):426-439. PubMed ID: 36691350
[TBL] [Abstract][Full Text] [Related]
7. Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy.
Raz V; Sterrenburg E; Routledge S; Venema A; van der Sluijs BM; Trollet C; Dickson G; van Engelen BG; van der Maarel SM; Antoniou MN
BMC Neurol; 2013 Jul; 13():70. PubMed ID: 23815790
[TBL] [Abstract][Full Text] [Related]
8. Cytoplasmic targeting of mutant poly(A)-binding protein nuclear 1 suppresses protein aggregation and toxicity in oculopharyngeal muscular dystrophy.
Abu-Baker A; Laganiere S; Fan X; Laganiere J; Brais B; Rouleau GA
Traffic; 2005 Sep; 6(9):766-79. PubMed ID: 16101680
[TBL] [Abstract][Full Text] [Related]
9. Mitochondrial localization of PABPN1 in oculopharyngeal muscular dystrophy.
Doki T; Yamashita S; Wei FY; Hara K; Yamamoto T; Zhang Z; Zhang X; Tawara N; Hino H; Uyama E; Kurashige T; Maruyama H; Tomizawa K; Ando Y
Lab Invest; 2019 Nov; 99(11):1728-1740. PubMed ID: 30894671
[TBL] [Abstract][Full Text] [Related]
10. A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging.
Anvar SY; Raz Y; Verway N; van der Sluijs B; Venema A; Goeman JJ; Vissing J; van der Maarel SM; 't Hoen PA; van Engelen BG; Raz V
Aging (Albany NY); 2013 Jun; 5(6):412-26. PubMed ID: 23793615
[TBL] [Abstract][Full Text] [Related]
11. HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy.
Fan X; Messaed C; Dion P; Laganiere J; Brais B; Karpati G; Rouleau GA
Can J Neurol Sci; 2003 Aug; 30(3):244-51. PubMed ID: 12945950
[TBL] [Abstract][Full Text] [Related]
12. Nuclear speckles are involved in nuclear aggregation of PABPN1 and in the pathophysiology of oculopharyngeal muscular dystrophy.
Bengoechea R; Tapia O; Casafont I; Berciano J; Lafarga M; Berciano MT
Neurobiol Dis; 2012 Apr; 46(1):118-29. PubMed ID: 22249111
[TBL] [Abstract][Full Text] [Related]
13. Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres.
Trollet C; Anvar SY; Venema A; Hargreaves IP; Foster K; Vignaud A; Ferry A; Negroni E; Hourde C; Baraibar MA; 't Hoen PA; Davies JE; Rubinsztein DC; Heales SJ; Mouly V; van der Maarel SM; Butler-Browne G; Raz V; Dickson G
Hum Mol Genet; 2010 Jun; 19(11):2191-207. PubMed ID: 20207626
[TBL] [Abstract][Full Text] [Related]
14. A Drosophila model of oculopharyngeal muscular dystrophy reveals intrinsic toxicity of PABPN1.
Chartier A; Benoit B; Simonelig M
EMBO J; 2006 May; 25(10):2253-62. PubMed ID: 16642034
[TBL] [Abstract][Full Text] [Related]
15. Functional impact of an oculopharyngeal muscular dystrophy mutation in PABPN1.
García-Castañeda M; Vega AV; Rodríguez R; Montiel-Jaen MG; Cisneros B; Zarain-Herzberg A; Avila G
J Physiol; 2017 Jul; 595(13):4167-4187. PubMed ID: 28303574
[TBL] [Abstract][Full Text] [Related]
16. Novel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial defects and suggest loss of PABPN1 may contribute to pathology.
Vest KE; Phillips BL; Banerjee A; Apponi LH; Dammer EB; Xu W; Zheng D; Yu J; Tian B; Pavlath GK; Corbett AH
Hum Mol Genet; 2017 Sep; 26(17):3235-3252. PubMed ID: 28575395
[TBL] [Abstract][Full Text] [Related]
17. PABPN1: molecular function and muscle disease.
Banerjee A; Apponi LH; Pavlath GK; Corbett AH
FEBS J; 2013 Sep; 280(17):4230-50. PubMed ID: 23601051
[TBL] [Abstract][Full Text] [Related]
18. Proteomic analysis reveals that wildtype and alanine-expanded nuclear poly(A)-binding protein exhibit differential interactions in skeletal muscle.
Banerjee A; Phillips BL; Deng Q; Seyfried NT; Pavlath GK; Vest KE; Corbett AH
J Biol Chem; 2019 May; 294(18):7360-7376. PubMed ID: 30837270
[TBL] [Abstract][Full Text] [Related]
19. A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation.
Nishii YS; Noto YI; Yasuda R; Kitaoji T; Ashida S; Tanaka E; Minami N; Nishino I; Mizuno T
BMC Neurol; 2021 Jul; 21(1):265. PubMed ID: 34225694
[TBL] [Abstract][Full Text] [Related]
20. Myopathy phenotype in transgenic mice expressing mutated PABPN1 as a model of oculopharyngeal muscular dystrophy.
Hino H; Araki K; Uyama E; Takeya M; Araki M; Yoshinobu K; Miike K; Kawazoe Y; Maeda Y; Uchino M; Yamamura K
Hum Mol Genet; 2004 Jan; 13(2):181-90. PubMed ID: 14645203
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
