Results 81 to 90 of about 3,185 (196)

GBA1-Associated Parkinson’s Disease Is a Distinct Entity

GBA1-associated Parkinson’s disease (GBA1-PD) is increasingly recognized as a distinct entity within the spectrum of parkinsonian disorders.
Arndt Rolfs, Aliaksandr Skrahin, Jan Lukas, Gilad Yahalom, Mikhal E. Cohen, Ozlem Goker-Alpan, Shoshana Revel-Vilk, Michal Becker-Cohen, Mia Horowitz, Volha Skrahina, Per Svenningsson, Ari Zimran, Sharon Hassin-Baer, Majdolen Istaiti   +13 more
core   +1 more source

PREDICT‐PD: A Two‐Stage Approach to Early Identification of Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Sasivimol Virameteekul, Sheena Waters, Brook Huxford, Ashvin Kuri, Manuela Tan, Laura Pérez‐Carbonell, Eduardo de Pablo‐Fernández, Anette Schrag, Alastair J. Noyce, Cristina Simonet   +9 more
wiley   +1 more source

The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta‐Analysis

Movement Disorders, EarlyView.
Abstract Background Variants in GBA1 are important genetic risk factors for synucleinopathies, including Parkinson's disease (PD). Although several GBA1 variants are established risk or severity modifiers, the role of the p.E427K variant remains unclear.
Leah V. Chifamba, Sitki Cem Parlar, Emma N. Somerville, Lang Liu, Eric Yu, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Jennifer A. Ruskey, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Irina Miliukhina, Lior Greenbaum, Sharon Hassin‐Baer, Orly Goldstein, Mandy Radefeldt, Peter Bauer, Christian Beetz, Allison A. Dilliott, James C. Beck, Konstantin Senkevich, ROPAD Study Group, The Parkinson's Foundation PD GENEration Study, Christine Klein, Roy N. Alcalay, Ziv Gan‐Or   +30 more
wiley   +1 more source

Ambroxol-induced rescue of defective glucocerebrosidase is associated with increased LIMP-2 and saposin C levels in GBA1 mutant Parkinson's disease cells

Neurobiology of Disease, 2015
Heterozygous mutations in GBA1 gene, encoding for lysosomal enzyme glucocerebrosidase (GCase), are a major risk factor for sporadic Parkinson's disease (PD).
Giulia Ambrosi, Cristina Ghezzi, Roberta Zangaglia, Giovanna Levandis, Claudio Pacchetti, Fabio Blandini   +5 more
doaj   +1 more source

Rare‐Variant Burden across Lysosomal Genes Implicates Sialylation and Ganglioside Metabolism in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Lysosomal dysfunction is central to Parkinson's disease (PD) pathogenesis, with GBA1 representing the strongest established genetic risk factor. Numerous other genes involved in lysosomal sphingolipid, glycosphingolipid, and ceramide metabolism have been proposed as contributors to PD, highlighting the need for genetic analyses ...
Konstantin Senkevich, Sitki Cem Parlar, Cloe Chantereault, Lang Liu, Eric Yu, Uladzislau Rudakou, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin‐Baer, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Roy N. Alcalay, Ziv Gan‐Or   +21 more
wiley   +1 more source

Clinical aspects and in vitro modelling of GBA1 variant-associated Parkinson's disease

, 2020
Parkinson’s disease (PD) is the second most common neurodegenerative disease, characterised by a typical movement disorder, accompanied by a number of non-motor manifestations including cognitive impairment, neuropsychiatric symptoms, autonomic features ...

core   +1 more source

Neuroprotective roles of klotho: Molecular pathways and therapeutic implications for cognitive health in neurological and psychiatric diseases

Experimental Physiology, EarlyView.
Abstract Klotho, a pleiotropic protein initially identified for its role in kidney function, has garnered significant attention for its neuroprotective properties in various neurodegenerative diseases. It regulates key processes, such as oxidative stress, neuroinflammation, synaptic plasticity and myelination, all crucial for maintaining neuronal ...
Amir Arsalan Ghahari, Leylinaz Safaeihavadaragh, Mehrdad Nourizadeh, Shaghayegh Davari, Saba Safaei, Farshad Zare, Safa Alkayyat, Erfan Kamali Far   +7 more
wiley   +1 more source

The Age at Onset of LRRK2 p.Gly2019Ser Parkinson's Disease Across Ancestries and Countries of Origin

Annals of Neurology, Volume 99, Issue 6, Page 1394-1404, June 2026.
Objectives The objective of this study was to elucidate differences in the cumulative incidence of Leucine‐rich repeat kinase 2 (LRRK2) p.Gly2019Ser‐related Parkinson's disease (PD; LRRK2‐PD) between ancestries and countries. Methods We included 922 unrelated p.Gly2019Ser variant carriers (affected = 762 and unaffected = 160) from the Global Parkinson ...
Theresa Lüth, Björn‐Hergen Laabs, Sebastian Sendel, Inke R. König, Amke Caliebe, Alastair J. Noyce, Laurel A. Screven, Soraya Bardien, Matthew Farrer, Faycel Hentati, Rim Amouri, Christine Klein, Samia Ben Sassi, Joanne Trinh, Global Parkinson's Genetics Program (GP2)   +14 more
wiley   +1 more source

The emerging role of autophagic-lysosomal dysfunction in Gaucher disease and Parkinson's disease

Neural Regeneration Research, 2017
Gaucher disease (GD), the commonest lysosomal storage disorder, results from the lack or functional deficiency of glucocerebrosidase (GCase) secondary to mutations in the GBA1 gene. There is an established association between GBA1 mutations and Parkinson'
Kerri J Kinghorn, Amir M Asghari, Jorge Iván Castillo-Quan   +2 more
doaj   +1 more source

In Vivo CRISPR Activation Screening Reveals Chromosome 1q Genes VPS72, GBA1, and MRPL9 Drive Hepatocellular Carcinoma

Cellular and Molecular Gastroenterology and Hepatology
Hepatocellular carcinoma (HCC) frequently undergoes regional chromosomal amplification, resulting in elevated gene expression levels. We aimed to elucidate the role of these poorly understood genetic changes by using CRISPR activation (CRISPRa) screening in mouse livers to identify which genes within these amplified loci are cancer driver genes.We used
Alexandra M. Vázquez Salgado, Chunmiao Cai, Markcus Lee, Dingzi Yin, Marie-Lise Chrystostome, Adrienne F. Gefre, Shirui He, Julia E. Kieckhaefer, Kirk J. Wangensteen   +8 more
openaire   +2 more sources