Results 91 to 100 of about 3,930 (214)

Motor subtypes and clinical characteristics in sporadic and genetic Parkinson's disease groups: analysis of the PPMI cohort

Frontiers in Neurology, 2023
IntroductionThe extensive clinical variations observed in Parkinson's disease (PD) pose challenges in early diagnosis and treatment initiation. However, genetic research in PD has significantly transformed the clinical approach to its treatment. Moreover,
Eun Hye Jeong, Jae Yong Lee, Sun-Ku Han, Yoo Sung Song, Yoo Sung Song   +4 more
doaj   +1 more source

Mitochondrial dysfunction associated with glucocerebrosidase deficiency [PDF]

, 2016
The lysosomal hydrolase glucocerebrosidase (GCase) is encoded for by the GBA gene. Homozygous GBA mutations cause Gaucher disease (GD), a lysosomal storage disorder.
Gegg, ME, Schapira, AH
core  

Sex-biased gene expression in the brown alga Fucus vesiculosus [PDF]

, 2013
Background The fucoid brown algae (Heterokontophyta, Phaeophyceae) are increasingly the focus of ecological genetics, biodiversity, biogeography and speciation research. The molecular genetics underlying mating system variation, where repeated dioecious
Martins, Maria João F., Mota, Catarina, Pearson, G. A.   +2 more
core   +1 more source

Splenic Artery Aneurysm in Gaucher Disease: A Hybrid Study Combining Case Report, Scoping Review, and Clinical Survey

JIMD Reports, Volume 66, Issue 6, November 2025.
ABSTRACT Gaucher disease (GD) is a rare lysosomal storage disorder caused by pathogenic variants in the GBA gene. Splenic artery aneurysm (SAA) is an uncommon and underrecognized complication of GD, particularly in the absence of traditional risk factors. SAA carries a high risk of rupture and significant mortality.
Paolo Manzi, Anita Vergatti, Veronica Abate, Nadia Altavilla, Michelina Sibilio, Pietro Venetucci, Paolo Tirelli, Domenico Rendina, Antonio Barbato   +8 more
wiley   +1 more source

Analysis of effectors of the Salmonella Typhimurium SPI‐2 type three secretion system

, 2012
Salmonella enterica serovar Typhimurium (S. Typhimurium), an intracellular pathogen, causes gastroenteritis in humans and a systemic disease in mice. The ability of Salmonella to replicate inside host cells requires translocation of effector proteins ...
Figueira, Ana Rita, Figueira, Ana Rita
core   +1 more source

Effects of X‐Ray Irradiation on the Biological Parameters, Gut Microbiota, and Gene Expression of Bactrocera dorsalis: Implications for the Sterile Insect Technique

Evolutionary Applications, Volume 18, Issue 10, October 2025.
ABSTRACT The sterile insect technique (SIT), traditionally reliant on gamma irradiation, has been an effective strategy for controlling Bactrocera dorsalis. However, strict regulations governing gamma radiation sources and the limited research on the responses of B. dorsalis to X‐ray irradiation have hindered the further development of SIT.
Jia Lin, Wensha Ding, Jun Chen, Guoqing Yue, Bo Wang, Qing'e Ji   +5 more
wiley   +1 more source

METTL3-induced lncRNA GBAP1 promotes hepatocellular carcinoma progression by activating BMP/SMAD pathway

Biology Direct, 2023
Background Hepatocellular carcinoma (HCC) is one of the most common and challenging cancers in the world. N6-methyladenosine (m6A) modification and long non-coding RNAs (lncRNAs) play critical roles in the progression of HCC.
Runkun Liu, Guozhi Yin, Hang Tuo, Yixian Guo, Yifeng Zhu, Lei Zhang, Wei Yang, Qingguang Liu, Yufeng Wang   +8 more
doaj   +1 more source

A new archaeal beta-glycosidase from Sulfolobus solfataricus: seeding a novel retaining beta-glycan-specific glycoside hydrolase family along with the human non-lysosomal glucosylceramidase GBA2.

Journal of Biological Chemistry, 2010
Carbohydrate active enzymes (CAZymes) are a large class of enzymes, which build and breakdown the complex carbohydrates of the cell. On the basis of their amino acid sequences they are classified in families and clans that show conserved catalytic ...
B. Cobucci-Ponzano, V. Aurilia, Gennaro Riccio, B. Henrissat, P. Coutinho, Andrea Strazzulli, A. Padula, M. M. Corsaro, G. Pieretti, G. Pocsfalvi, I. Fiume, R. Cannio, M. Rossi, M. Moracci   +13 more
semanticscholar   +1 more source

Fundamental Neurochemistry Review: Sphingolipids and Ceramides in Brain Development

Journal of Neurochemistry, Volume 169, Issue 10, October 2025.
Ceramides and sphingolipids in brain development and cell compartments. Ceramides and sphingolipids are known to influence multiple steps of brain development, including the formation of the neural tube, neural stem cell polarity and proliferation at the ventricular boundary, neuronal migration—for example, whilst migrating on radial glial processes ...
Kaviya Chinnappa, Fiona Ballorin, Fiona Francis   +2 more
wiley   +1 more source

The clinical efficacy of imiglucerase versus eliglustat in patients with Gaucher's disease Type 1: A systematic review

Journal of Research in Pharmacy Practice, 2018
Gaucher's disease (GD) is one of the most common lysosomal diseases in humans. It results from β-glucosidase deficiency and leads to necrosis, especially in macrophages with the accumulation of glucosylceramidase in cells. Most of the deleterious effects
Azita Nabizadeh, Bahman Amani, Maliheh Kadivar, Mahdi Toroski, Akbar Abdollahi Asl, Yahya Bayazidi, Mahdi Mojahedian, Majid Davari   +7 more
doaj   +1 more source