Results 131 to 140 of about 3,185 (196)

Stearoyl-CoA desaturase inhibition normalizes brain lipid saturation, α-synuclein homeostasis, and motor function in mutant Gba1-Parkinson mice

JCI Insight
Loss-of-function mutations in the GBA1 gene are a prevalent risk factor for Parkinson’s disease (PD). Defining features are Lewy bodies that can be rich in α-synuclein (αS), vesicle membranes, and other lipid membranes, coupled with striatal dopamine ...
Silke Nuber, Harrison Hsiang, Esra’a Keewan, Tim E. Moors, Sydney J. Reitz, Anupama Tiwari, Gary P.H. Ho, Elena Su, Wolf Hahn, Marie-Alexandre Adom, Riddhima Pathak, Matthew Blizzard, Sangjune Kim, Han Seok Ko, Xiaoqun Zhang, Per Svenningsson, Dennis J. Selkoe, Saranna Fanning   +17 more
doaj   +1 more source

Progression of GBA1 Gaucher-related and Parkinson’s-risk variants: A longitudinal mixed model analysis

BACKGROUND Heterozygous variants in the gene glucocerebrosidase (GBA1) causing Gaucher’s disease, a recessive lysosomal storage disorder, are involved in Parkinson’s disease (PD) pathogenesis.
Rejko Krüger, McCrum, Christopher; id_orcid, May, Patrick, Armin Rauschenberger, Aguayo, Gloria, Christopher McCrum, Gloria Aguayo, Tsurkalenko, Olena, Jónsdóttir, S. R., Landoulsi, Zied, Pauly, Laure, Patrick May, Sonja R. Jónsdóttir, Pauly, Claire, Olena Tsurkalenko, Zied Landoulsi, Hanff, Anne-Marie, Pachchek, Sinthuja, Leist, Anja, Rauschenberger, Armin, Laure Pauly, Zeegers, Maurice; id_orcid, Anja Leist, Anne-Marie Hanff, Krüger, Rejko, Maurice Zeegers, Sinthuja Pachchek, Claire Pauly   +27 more
core   +1 more source

Parkinson's disease and Gaucher disease : focus on the GBA1 link

Parkinson’s disease (PD) is the 2nd most common neurodegenerative disorder in the world, characterized by both motor as well as many non-motor features.
Lovisa Brodin (18689800)
core  

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.

Recently, an African ancestry-specific Parkinson disease (PD) risk signal was identified at the gene encoding glucocerebrosidase (GBA1). This variant ( rs3115534 -G) is carried by ~50% of West African PD cases and imparts a dose-dependent increase in ...

core   +1 more source

Acid β-glucosidase (GBA1) gene mutational spectrum and clinical phenotypes in patients with gaucher disease: seven novel mutations in a multicenter retrospective cohort study from upper Egypt. [PDF]

Mol Cell Pediatr
Youssef MAM, Elsayed SM, Elsayh KI, Taha SA, Abdelmotogaly HSM, Embaby MM.   +5 more
europepmc   +1 more source

Patient-specific midbrain organoids with CRISPR correction recapitulate neuronopathic Gaucher disease phenotypes and enable evaluation of novel therapies. [PDF]

Elife
Lin Y, Liou B, Fannin V, Adler S, Mayhew CN, Hammonds JE, Hu YC, Tchieu J, Zhang W, Zhao X, Beres RL, Setchell KDR, Kaynak A, Qi X, Feldman RA, Sun Y.   +15 more
europepmc   +1 more source

mTOR Inhibition Drives Mutation-Specific Remodeling of Lysosomal and Autophagic Pathways and GCase Activity in PBMC-Derived Macrophages from Patients with GBA1-Associated Parkinson's Disease. [PDF]

Curr Issues Mol Biol
Bezrukova A, Basharova K, Emelyanov A, Lavrinova A, Krapova A, Galkina E, Skudarnova E, Baydakova G, Miliukhina I, Zakharova E, Pchelina S, Usenko T.   +11 more
europepmc   +1 more source

Genotype-phenotype correlations and mutation spectrum of GBA1 in Gaucher disease across Asian populations: a systematic review. [PDF]

Hum Genomics
Konarbayeva A, Atavliyeva S, Auganova D, Baduanova S, Tarlykov P.   +4 more
europepmc   +1 more source

LRRK2 and GBA1 in Lewy body diseases: neuropathological subtypes at opposite ends of a spectrum? [PDF]

Mol Neurodegener
Jha V, Kalia LV.
europepmc   +1 more source

Family studies in Gaucher Disease: a key resource for early diagnosis and personalized treatment strategies. [PDF]

Orphanet J Rare Dis
Vinci M, Giacomarra M, D'Errico A, Fischetto R, Palumbo G, Tartaglione I, Tirelli P, Messina E, Russo M, Francofonte D, Colomba P, Duro G, Zizzo C.   +12 more
europepmc   +1 more source