Nabar, Neel R Heijjer, Christopher N Shi, Chong-Shan Hwang, Il-Young Ganesan, Sundar Karlsson, Mikael C I Kehrl, John H
Published in
Autophagy
CD38 is a cell surface receptor capable of generating calcium-mobilizing second messengers. It has been implicated in host defense and cancer biology, but signaling mechanisms downstream of CD38 remain unclear. Mutations in LRRK2 (leucine-rich repeat kinase 2) are the most common genetic cause of Parkinson disease; it is also a risk factor for Croh...
Vázquez-Vélez, Gabriel E. Zoghbi, Huda Y.
Parkinson's disease (PD) is a common neurodegenerative disorder characterized by degeneration of the substantia nigra pars compacta and by accumulation of α-synuclein in Lewy bodies. PD is caused by a combination of environmental factors and genetic variants. These variants range from highly penetrant Mendelian alleles to alleles that only modestly...
Lee, Jee Hoon Han, Ji-hye Joe, Eun-hye Jou, Ilo
Published in
Journal of Biomedical Science
BackgroundEndoplasmic reticulum (ER) stress is a common feature of Parkinson’s disease (PD), and several PD-related genes are responsible for ER dysfunction. Recent studies suggested LRRK2-G2019S, a pathogenic mutation in the PD-associated gene LRRK2, cause ER dysfunction, and could thereby contribute to the development of PD. It remains unclear, h...
Yang, Chunxiu Pang, Jingjing Xu, Jian Pan, He Li, Yueying Zhang, Huainian Liu, Huan Xiao, Shu-Yuan
Published in
Cancer Cell International
BackgroundClear cell renal cell carcinoma (ccRCC), derived from renal tubular epithelial cells, is the most common malignant tumor of the kidney. The study of key genes related to the pathogenesis of ccRCC has become important for gene target therapy.MethodsBioinformatics analysis of The Cancer Genome Atlas (TCGA), the NCBI Gene Expression Omnibus ...
Streubel-Gallasch, Linn Giusti, Veronica Sandre, Michele Tessari, Isabella Plotegher, Nicoletta Giusto, Elena Masato, Anna Iovino, Ludovica Battisti, Ilaria Arrigoni, Giorgio
...
Published in
Molecular neurobiology
Parkinson's disease (PD) is a neurodegenerative, progressive disease without a cure. To prevent PD onset or at least limit neurodegeneration, a better understanding of the underlying cellular and molecular disease mechanisms is crucial. Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene represent one of the most common causes of familial PD...
Oliveira, Sara R. Dionísio, Pedro A. Gaspar, Maria M. Correia Guedes, Leonor Coelho, Miguel Rosa, Mário M. Ferreira, Joaquim J. Amaral, Joana D. Rodrigues, Cecília M. P.
Published in
Frontiers in Cell and Developmental Biology
Parkinson’s disease (PD) is mainly driven by dopaminergic neuronal degeneration in the substantia nigra pars compacta accompanied by chronic neuroinflammation. Despite being mainly sporadic, approximately 10% of all cases are defined as heritable forms of PD, with mutations in the leucine-rich repeat kinase (LRRK2) gene being the most frequent know...
Abe, Tetsuro Kuwahara, Tomoki
Published in
Frontiers in Neurology
Previous genetic studies on hereditary Parkinson's disease (PD) have identified a set of pathogenic gene mutations that have strong impacts on the pathogenicity of PD. In addition, genome-wide association studies (GWAS) targeted to sporadic PD have nominated an increasing number of genetic variants that influence PD susceptibility. Although the cli...
Calamini, Barbara Geyer, Nathalie Huss-Braun, Nathalie Bernhardt, Annie Harsany, Véronique Rival, Pierrick Cindhuchao, May Hoffmann, Dietmar Gratzer, Sabine
Published in
Disease Models & Mechanisms
Summary: Using Lund human mesencephalic cell-derived dopaminergic neurons, we developed a translational model of Parkinson's disease (PD) for the study of PD biology and for high-throughput screening for the identification of small-molecule PD therapeutics.
Yılmazer, Selma Candaş, Esin Genç, Gençer Alaylıoğlu, Merve Şengül, Büşra Gündüz, Ayşegül Apaydın, Hülya Kızıltan, Güneş Ertan, Sibel Dursun, Erdinç
...
Published in
Neuromolecular medicine
Parkinson's disease (PD) is a chronic neurodegenerative disease that has relatively slow progression with motor symptoms. Leucine-rich repeat kinase 2 (LRRK2) gene mutations and polymorphisms are suggested to be associated with PD. In this study, we aimed to investigate the association between single-nucleotide polymorphisms (SNPs) of the LRRK2 gen...
Oliveira, Pablo Rafael Silveira de Matos, Lorena Oliveira Araujo, Nathalia Matta Sant Anna, Hanaísa P. da Silva e Silva, Daniel Almeida Damasceno, Andresa K. Andrade Martins de Carvalho, Luana Horta, Bernardo L. Lima-Costa, Maria Fernanda Barreto, Mauricio Lima
...
Published in
Frontiers in Psychiatry
Background: Genetics influence the vulnerability to alcohol use disorders, and among the implicated genes, three previous studies have provided evidences for the involvement of LRRK2 in alcohol dependence (AD). LRRK2 expression is broadly dysregulated in postmortem brain from AD humans, as well as in the brain of mice with alcohol dependent-like be...
