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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Osorio AN, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Schöneborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, Bönnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J, Pandey UB. Kour S, et al. Nat Commun. 2021 May 7;12(1):2558. doi: 10.1038/s41467-021-22627-w. Nat Commun. 2021. PMID: 33963192 Free PMC article.
FUS pathology in ALS is linked to alterations in multiple ALS-associated proteins and rescued by drugs stimulating autophagy.
Marrone L, Drexler HCA, Wang J, Tripathi P, Distler T, Heisterkamp P, Anderson EN, Kour S, Moraiti A, Maharana S, Bhatnagar R, Belgard TG, Tripathy V, Kalmbach N, Hosseinzadeh Z, Crippa V, Abo-Rady M, Wegner F, Poletti A, Troost D, Aronica E, Busskamp V, Weis J, Pandey UB, Hyman AA, Alberti S, Goswami A, Sterneckert J. Marrone L, et al. Among authors: kour s. Acta Neuropathol. 2019 Jul;138(1):67-84. doi: 10.1007/s00401-019-01998-x. Epub 2019 Apr 1. Acta Neuropathol. 2019. PMID: 30937520 Free PMC article.
Muscleblind acts as a modifier of FUS toxicity by modulating stress granule dynamics and SMN localization.
Casci I, Krishnamurthy K, Kour S, Tripathy V, Ramesh N, Anderson EN, Marrone L, Grant RA, Oliver S, Gochenaur L, Patel K, Sterneckert J, Gleixner AM, Donnelly CJ, Ruepp MD, Sini AM, Zuccaro E, Pennuto M, Pasinelli P, Pandey UB. Casci I, et al. Among authors: kour s. Nat Commun. 2019 Dec 6;10(1):5583. doi: 10.1038/s41467-019-13383-z. Nat Commun. 2019. PMID: 31811140 Free PMC article.
Nucleocytoplasmic Proteomic Analysis Uncovers eRF1 and Nonsense-Mediated Decay as Modifiers of ALS/FTD C9orf72 Toxicity.
Ortega JA, Daley EL, Kour S, Samani M, Tellez L, Smith HS, Hall EA, Esengul YT, Tsai YH, Gendron TF, Donnelly CJ, Siddique T, Savas JN, Pandey UB, Kiskinis E. Ortega JA, et al. Among authors: kour s. Neuron. 2020 Apr 8;106(1):90-107.e13. doi: 10.1016/j.neuron.2020.01.020. Epub 2020 Feb 13. Neuron. 2020. PMID: 32059759 Free PMC article.
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5.
Rajan DS, Kour S, Fortuna TR, Cousin MA, Barnett SS, Niu Z, Babovic-Vuksanovic D, Klee EW, Kirmse B, Innes M, Rydning SL, Selmer KK, Vigeland MD, Erichsen AK, Nemeth AH, Millan F, DeVile C, Fawcett K, Legendre A, Sims D, Schnekenberg RP, Burglen L, Mercier S, Bakhtiari S, Francisco-Velilla R, Embarc-Buh A, Martinez-Salas E, Wigby K, Lenberg J, Friedman JR, Kruer MC, Pandey UB. Rajan DS, et al. Among authors: kour s. Front Cell Dev Biol. 2022 Feb 28;10:783762. doi: 10.3389/fcell.2022.783762. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 35295849 Free PMC article.
Functional and structural deficiencies of Gemin5 variants associated with neurological disorders.
Francisco-Velilla R, Embarc-Buh A, Del Caño-Ochoa F, Abellan S, Vilar M, Alvarez S, Fernandez-Jaen A, Kour S, Rajan DS, Pandey UB, Ramón-Maiques S, Martinez-Salas E. Francisco-Velilla R, et al. Among authors: kour s. Life Sci Alliance. 2022 Apr 7;5(7):e202201403. doi: 10.26508/lsa.202201403. Print 2022 Jul. Life Sci Alliance. 2022. PMID: 35393353 Free PMC article.
66 results