Results 91 to 100 of about 3,185 (196)

Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene

Stem Cell Research, 2019
Gaucher Disease (GD) type 3 is a neurological form of a multisystemic autosomal recessive disorder belonging to the group of lysosomal storage diseases. Causal mutations in the glucocerebrosidase 1 (GBA1) commonly lead to abnormal protein and GD, heterozygosity is a genetic risk factor for Parkinson's disease.
Ana Joana Duarte, Diogo Ribeiro, Renato Santos, Luciana Moreira, José Bragança, Olga Amaral   +5 more
openaire   +4 more sources

Secretome Analyses Identify FKBP4 as a GBA1-Associated Protein in CSF and iPS Cells from Parkinson’s Disease Patients with GBA1 Mutations

Mutations in the GBA1 gene increase the risk of developing Parkinson’s disease (PD). However, most carriers of GBA1 mutations do not develop PD throughout their lives.
Xiaoqun Zhang, Rika Kojima, Per Svenningsson, Wojciech Paslawski, Guochang Lyu, Ernest Arenas   +5 more
core   +1 more source

Rethinking Mitochondrial Parkinson's Disease in the α‐Synuclein Seed Amplification Assays Era

Movement Disorders, EarlyView.
Marco Percetti, Vidal Yahya, Alessio Di Fonzo, Edoardo Monfrini   +3 more
wiley   +1 more source

Cilia in Nervous System Development, Function, and Disease

MedComm – Future Medicine, Volume 5, Issue 2, June 2026.
Cilia are evolutionarily conserved organelles that function as essential sensory and motility platforms in the nervous system. This review outlines key cilia‐dependent signaling pathways and their roles in neural development and function. Furthermore, it highlights how ciliary dysfunction can lead to a variety of neurological disorders, known as ...
Qingchao Li, Anqi Zhang, Ting Song
wiley   +1 more source

Neuroprotective effects of ursodeoxycholic acid in Parkinson's disease and Alzheimer's disease

Neuroprotection, Volume 4, Issue 2, Page 111-130, June 2026.
In Parkinson's disease (PD) and Alzheimer's disease (AD), various shared pathological mechanisms exist. UDCA has been shown to exert neuroprotective effects in preclinical and clinical studies. Such effects include the mitigation of neuroinflammation as well as rescue effects on mitochondrial dysfunction, oxidative stress, impaired autophagy, and ...
Ashley En Yi Chong, Andrew Octavian Sasmita, Rhun Yian Koh, Anna Pick Kiong Ling   +3 more
wiley   +1 more source

DNA Methylation of α-Synuclein Intron 1 Is Significantly Decreased in the Frontal Cortex of Parkinson’s Individuals with GBA1 Mutations

, 2023
Parkinson’s disease (PD) is a common movement disorder, estimated to affect 4% of individuals by the age of 80. Mutations in the glucocerebrosidase 1 (GBA1) gene represent the most common genetic risk factor for PD, with at least 7–10% of non-
Katie Lunnon, Adam R. Smith, Anna Migdalska-Richards, Anthony H. V. Schapira, David M. Richards   +4 more
core   +1 more source

Glucocerebrosidase and its relevance to Parkinson disease

Molecular Neurodegeneration, 2019
Mutations in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase, are among the most common known genetic risk factors for the development of Parkinson disease and related synucleinopathies.
Jenny Do, Cindy McKinney, Pankaj Sharma, Ellen Sidransky   +3 more
doaj   +1 more source

Acid ceramidase overactivity drives ceramide loss, leading to atopic dry skin and Th2‐skewed immune polarization

The Journal of Pathology, Volume 269, Issue 2, Page 232-247, June 2026.
Abstract Ceramide deficiency in the stratum corneum (SC) is a key etiological factor in atopic dermatitis (AD). To clarify the direct role of SC ceramide depletion in impairing SC barrier and water‐holding functions and in initiating AD‐like skin symptoms and disease‐specific molecular alterations, we generated Tg mice overexpressing a mutant form of ...
Mariko Takada, Miho Sashikawa‐Kimura, Yusuke Ohno, Md Razib Hossain, Xiaonan Xie, Kazuhisa Iwabuchi, Mayumi Komine, Mamitaro Ohtsuki, Genji Imokawa   +8 more
wiley   +1 more source

Generation and characterization of induced pluripotent stem cell lines from one Parkinson’s disease patient carrying the GBA1 T369M variant and two variant-free controls

Stem Cell Research
The p.Thr369Met variant in the glucosylcerebrosidase Beta I gene (GBA1) is associated with Parkinson disease (PD) but its impact is debated. We generated and characterized human induced pluripotent stem cells from PBMCs of three PD patients: one carrying
Mahya Hosseini Bondarabadi, Mingqian Xu, Sofie Slingerland, Jim de Leeuw, Iris Sommer, Hermie J.M. Harmsen, Teus van Laar, Sven C.D. van Ijzendoorn   +7 more
doaj   +1 more source

Endoplasmic reticulum stress-related genes drive M1 macrophage polarization in preeclampsia via modulating metabolic reprogramming: a bioinformatic study

Hypertension in Pregnancy
Background Preeclampsia (PE), a serious obstetric complication impacting maternal and fetal health, still lacks reliable biomarkers owing to limited sensitivity, specificity, and disease heterogeneity.Methods Differentially expressed genes (DEGs) were ...
Chunzi Xu, Ruikun Hu, Yun Lu, Ling Gu, Hui Xu, Xu Huang   +5 more
doaj   +1 more source