Results 51 to 60 of about 3,074 (177)

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene

Frontiers in Pediatrics, 2023
Gaucher disease (GD, ORPHA355) is a rare autosomal recessive genetic disease caused by mutations in GBA1, which encodes the lysosomal enzyme glucocerebrosidase (GCase).
Qi Liu, Zongrui Shen, Zongrui Shen, Hong Pan, Shunfei Ma, Shunfei Ma, Fu Xiong, Fu Xiong, Fei He, Fei He   +9 more
doaj   +1 more source

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer, Oswaldo Lorenzo‐Betancor, Dong‐Hui Chen, Kimmy Su, Marika Bogdani, Anna J. Park, Minsuh Kim, Joshua Weiss, Malia Callier, Ella H. Chiu, Sarah Fish, Jennifer L. Witt, Wendy H. Raskind, Marie Y. Davis, C. Dirk Keene, Cyrus P. Zabetian   +15 more
wiley   +1 more source

Long‐Duration Response to Levodopa in the PPMI‐Cohort

Movement Disorders, EarlyView.
Abstract Background Treatment of Parkinson's disease (PD) with levodopa results in a sustained reduction of symptoms. Although the plasma half‐life of levodopa is short, it elicits a lasting effect, the long‐duration levodopa response (LDR). A decrease in LDR as PD progresses has been linked to motor complications, but long‐term data on the LDR and its
Nils Schnalke, Tim Feige, Tom Hähnel, Björn Falkenburger   +3 more
wiley   +1 more source

Electroencephalography‐Based Clustering Reveals Robust Neurophysiological Subtypes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Parkinson's disease (PD) is clinically heterogeneous, with substantial variability in motor and cognitive features. Conventional clinical scales provide limited insight into underlying neural mechanisms and show poor longitudinal stability.
Daniel Vered, Zoya Katzir, Idan Daniel Grosbard, Avner Thaler, Inbal Maidan   +4 more
wiley   +1 more source

Clinical, mechanistic, biomarker, and therapeutic advances in GBA1-associated Parkinson’s disease

Translational Neurodegeneration
Parkinson’s disease (PD) is the second most common neurodegenerative disease. The development of PD is closely linked to genetic and environmental factors, with GBA1 variants being the most common genetic risk.
Xuxiang Zhang, Heng Wu, Beisha Tang, Jifeng Guo   +3 more
doaj   +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

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

Interplay of GBA1 with lysosomal dysfunction and inflammation in Parkinson’s disease

Neural Regeneration Research
Mutations in the glucocerebrosidase ( GBA1 ) gene, encoding the lysosomal enzyme glucocerebrosidase, represent the most significant genetic risk factor for Parkinson's disease. These variants define a distinct clinical subtype characterized by earlier onset, accelerated motor decline, and ...
Ruochen Wang, Taku Hatano, Nobutaka Hattori, Davide Cossu   +3 more
openaire   +2 more sources

Early‐Onset Parkinson's Disease with 22q11.2 Microdeletion and Pathogenic GBA1 Variant

Movement Disorders Clinical Practice, EarlyView.
Nikolai Gil D. Reyes, Daniel G. Di Luca, Ivan Martinez‐Valbuena, Erik Boot, Maria Corral, Ryan K.C. Yuen, Connie Marras, Anthony E. Lang, Anne S. Bassett   +8 more
wiley   +1 more source