Results 111 to 120 of about 3,185 (196)

Lack of Cerebrospinal Fluid α‐Synuclein Seeding in VPS35 D620N‐ and LRRK2 Y1699C‐Linked Parkinson's Disease

Movement Disorders, Volume 41, Issue 6, Page 1605-1608, June 2026.
Letizia Santinelli, Neringa Pratuseviciute, Lara M. Lange, Teresa Kleinz, Norbert Brüggemann, Linn Streubel‐Gallasch, Meret Möller, Alexander Zimprich, Christof Brücke, Jean‐Marc Good, Norman Griebner, Shalini Padmanabhan, Philip Seibler, Peter Bauer, Wim Vandenberghe, Esther Sammler, Cornelis Blauwendraat, Christine Klein, Max Borsche   +18 more
wiley   +1 more source

Additional file 1 of Two lysosomal genes ATP13A2 and GBA1 interact to drive neurodegeneration

Supplementary Material ...
Gu, Mingxue, Zhao, Jinghan, Deng, Mingxi, Lin, Guang, Pan, Xueyang, Lin, Wenwen, Ma, Mengqi, Kim, Jinyong, Byeon, Seul Kee, Pandey, Akhilesh, Lange, Lara M., Shaw, Chad A., Kim, Jonggeol, Trinh, Joanne, Klein, Christine, Kanca, Oguz, Shulman, Joshua M., Bellen, Hugo J.   +17 more
openaire   +1 more source

Dementia with lewy bodies: GBA1 mutations are associated with cerebrospinal fluid alpha-synuclein profile

, 2019
Background: Patients with dementia with Lewy bodies reveal a variable pathology including alpha-synuclein, amyloid-beta, and Tau. Mutations in GBA1 are specifically associated with synucleinopathies.
Machetanz G., Pilotto A., Hauser A. -K., Deuschle C., Wurster I., Preische O., Roeben B., Gasser T., Lachmann I., Lerche S., Waniek K., Brockmann K., Zimmermann M., Stransky E., Berg D., Maetzler W., Schulte C.   +16 more
core   +1 more source

Inhibition of cysteine protease cathepsin Lincreases the level and activity of lysosomal glucocerebrosidase

JCI Insight
The glucocerebrosidase (GCase) encoded by the GBA1 gene hydrolyzes glucosylceramide (GluCer) to ceramide and glucose in lysosomes. Homozygous or compound heterozygous GBA1 mutations cause the lysosomal storage disease Gaucher disease (GD) due to severe ...
Myung Jong Kim, Soojin Kim, Thomas Reinheckel, Dimitri Krainc   +3 more
doaj   +1 more source

UPR activation and CHOP mediated induction of GBA1 transcription in Gaucher disease

, 2016
Chronic presence of mutant, misfolded proteins in the endoplasmic reticulum (ER) initiates ER stress and induces the Unfolded Protein Response (UPR).In Gaucher disease (GD), resulting from mutations in the GBA1 gene, encoding lysosomal acid β ...
Maor, Gali, Filocamo, Mirella, Horowitz, Mia, Braunstein, Hila, Chicco, Gaya, Zimran, Ari   +5 more
core   +1 more source

A Global Perspective of GBA1-Related Parkinson’s Disease: A Narrative Review

Parkinson’s disease (PD) is considered to be the second most prominent neurodegenerative disease and has a global prevalence. Glucocerebrosidase (GBA1) gene mutations represent a significant hereditary risk factor for the development of PD and have
Ioanna Pachi, Anastasia Bougea, Ioanna Alefanti, Evangelos Sfikas, Athina Maria Simitsi, Leonidas Stefanis, Christos Koros, Nikolaos Papagiannakis, Roubina Antonelou   +8 more
core   +1 more source

Penetrance of Parkinson's disease in GBA1 carriers is depending on the variant severity and polygenic background [PDF]

Background: Heterozygous variants in the GBA1 gene cause Parkinson's disease (PD) with variable penetrance and have been classified into severe, mild, and PD-specific risk variants based on their association with Gaucher's disease (GD; mild and severe ...
Krawitz, Peter, Maj, Carlo, LANDOULSI, Zied, HASSANIN, Emadeldin, MAY, Patrick, KRÜGER, Rejko, PACHCHEK, Sinthuja, BOBBILI, Dheeraj Reddy   +7 more
core   +1 more source

Genetic and phenotypic characterization of Parkinson’s disease at the clinic-wide level

npj Parkinson's Disease
Observational studies in Parkinson’s disease (PD) deeply characterize relatively small numbers of participants. The Molecular Integration in Neurological Diagnosis Initiative seeks to characterize molecular and clinical features of every PD patient at ...
Thomas F. Tropea, Whitney Hartstone, Noor Amari, Dylan Baum, Jacqueline Rick, Eunran Suh, Hanwen Zhang, Rachel A. Paul, Noah Han, Rebecca Zack, Eliza M. Brody, Isabela Albuja, Justin James, Meredith Spindler, Andres Deik, Whitley W. Aamodt, Nabila Dahodwala, Ali Hamedani, Aaron Lasker, Howard Hurtig, Matthew Stern, Daniel Weintraub, Pavan Vaswani, Allison W. Willis, Andrew Siderowf, Sharon X. Xie, Vivianna Van Deerlin, Alice S. Chen-Plotkin   +27 more
doaj   +1 more source

Genetic and clinical pharmacology studies in GBA1-associated Parkinson's disease

, 2022
This thesis focusses on the further unravelling of one of the mechanisms involved in developing Parkinson's disease: the GBA1 gene, encoding the lysosomal enzyme GCase.
Heijer, J.M. den
core