424 makale bulundu

Severe GBA1 variants drive the GBA1-PD clinical phenotype: implications for counselling and clinical trials.

Şiddetli GBA1 varyantları GBA1-PD klinik fenotipini yönlendirir: danışmanlık ve klinik denemeler için çıkarımlar.

Menozzi E, Del Pozo SL, Macnaughtan J, Mezabrovschi R, Koletsi S, Mitrotti P, Gallo L, Calabrese R, Toffoli M, Loefflad N, Valzania F, Cavallieri F, Fioravanti V, Yalkic S, Limbachiya N, Blandini F, Avenali M, Schapira AH.

NPJ Parkinsons Dis · 2025-10-01

DOI: 10.1038/s41531-025-01063-3PMID: 41034226

Epigenomic profile of GBA1 in Parkinson's disease.

Berson E, Zaghroun R, Santoro M, Bukhari S, Seong D, Shu CH, Perna A, James T, Montine KS, Serrano GE, Beach TG, Keene CD, Chang HY, Corces MR, Cholerton B, Aghaeepour N, Montine TJ.

Parkinsonism Relat Disord · 2025-09-27

DOI: 10.1016/j.parkreldis.2025.108066PMID: 41033114

Synaptic vesicle endocytosis deficits underlie cognitive dysfunction in mouse models of GBA-linked Parkinson's disease and dementia with Lewy bodies.

Sinaptik vezikül endositoz açıkları, GBA bağlantılı Parkinson hastalığı ve Lewy cisimleriyle demans fare modellerinde bilişsel işlev bozukluğunun altında yer alır.

Vidyadhara DJ, Bäckström D, Chakraborty R, Ruan J, Park JM, Mistry PK, Chandra SS.

Nat Commun · 2025-09-26

DOI: 10.1038/s41467-025-63444-9PMID: 41006254

p.N370S <i>GBA1</i> Mutation Influences the Morphology and Lipid Composition of Extracellular Vesicles in Blood Plasma from Patients with Parkinson's Disease.

Usenko TS, Kopytova AE, Izyumchenko AD, Kulabukhova DG, Silantyev AS, Kazakova VD, Basharova KS, Bezrukova AI, Garaeva LA, Pichkur EB, Artynyuk AV, Miliukhina IV, Timofeeva AA, Miroshnikova VV, Naryzhny SN, Emelyanov AK, Zakharzhevskaya NB, Konevega AL, Shtam TA, Pchelina SN.

Int J Mol Sci · 2025-09-19

DOI: 10.3390/ijms26189152PMID: 41009720

Artificial Intelligence Predicts GBA1 Mutated Status in Parkinson's Disease Patients.

Di Rauso G, Ghibellini A, Grisanti S, Fioravanti V, Monfrini E, Toschi G, Portaro G, Argenziano G, Bacchin R, Rossi J, Sabadini R, Ferrari V, Melpignano A, Pacillo F, Scarano M, Groppi A, Gherardini L, Lucchi C, Biagini G, Montepietra S, Malaguti MC, Campanini I, Merlo A, Castellucci A, Ghidini A, Fraternali A, Versari A, Scaglioni A, Paul JJ, Bononi L, Gabbrielli M, Di Fonzo A, Bauer P, Cavallieri F, Valzania F.

Mov Disord Clin Pract · 2025-09-08

DOI: 10.1002/mdc3.70334PMID: 40922551

Restoration of Lysosomal Hydrolase Activities by LRRK2 Inhibition in GBA1- and LRRK2-Associated Parkinson's Disease Patient-Derived Cells.

Usenko TS, Basharova KS, Bezrukova AI, Grigor'eva EV, Pavlova SV, Baydakova GV, Nikolaev MA, Gaponenko IN, Khegay OV, Miliukhina IV, Zakharova EY, Pchelina SN.

J Neurochem · 2025-09-01

DOI: 10.1111/jnc.70214PMID: 40899651

More Than Rapid Eye Movement Sleep Behavior Disorder: Sleep Differences in Parkinson's Disease LRRK2 and GBA Genotypes.

Wise A, Raymond D, Yang M, Astefanous A, Cohen A, Beltre M, Young C, Plitnick B, Bressman SB, Figueiro MG, Saunders-Pullman R.

J Sleep Med · 2025-08-27

DOI: 10.13078/jsm.250016PMID: 41031107

Is GBA1 mutation status a game-changer for impulse control behaviour in Parkinson's disease?

Kresojević N, Marković V, Geratović C, Lukić MJ, Tomić A, Dobričić V, Stanković I, Stojković T, Dragašević N, Šarčević M, Janković M, Marjanović A, Novaković I, Kostić V, Svetel M, Petrović I.

Neurol Sci · 2025-08-26

DOI: 10.1007/s10072-025-08448-5PMID: 40855369

Polymeric nanoparticle-mediated GBA1 gene therapy is neuroprotective in a preclinical model of Parkinson's disease.

Kwatra M, Kwak G, Li H, Suk JS, Ko HS.

Drug Deliv Transl Res · 2025-08-20

DOI: 10.1007/s13346-025-01944-3PMID: 40836186

Correction: Deregulation of mTORC1-TFEB axis in human iPSC model of <i>GBA1</i>-associated Parkinson's disease.

Mubariz F, Saadin A, Lingenfelter N, Sarkar C, Banerjee A, Lipinski MM, Awad O.

Front Neurosci · 2025-08-19

DOI: 10.3389/fnins.2025.1657693PMID: 40904732

Comparative study of autonomic dysfunction between Parkinson's disease with LRRK2, PRKN, and GBA mutations.

Maldotti Dalla Corte B, Medeiros Soares N, de Carvalho Neto EG, de Mello Rieder CR.

Front Neurol · 2025-08-19

DOI: 10.3389/fneur.2025.1657824PMID: 40904824

Genetic analysis of GBA1 gene in a cohort of patients with Parkinson's disease.

Gagliardi M, Morelli M, Arabia G, Procopio R, Felicetti A, D'Amelio M, Talarico M, Gambardella A, Quattrone A, Annesi G, Quattrone A.

Parkinsonism Relat Disord · 2025-08-19

DOI: 10.1016/j.parkreldis.2025.108007PMID: 40848607