User profiles for "author:Dheeraj Reddy Bobbili"
Dheeraj Reddy BobbiliWellytics | University of Luxembourg Verified email at wellytics.health Cited by 534 |
Metformin reverses TRAP1 mutation-associated alterations in mitochondrial function in Parkinson's disease
JC Fitzgerald, A Zimprich, DA Carvajal Berrio… - Brain, 2017 - academic.oup.com
The mitochondrial proteins TRAP1 and HTRA2 have previously been shown to be
phosphorylated in the presence of the Parkinson's disease kinase PINK1 but the …
phosphorylated in the presence of the Parkinson's disease kinase PINK1 but the …
[HTML][HTML] Breast and prostate cancer risk: The interplay of polygenic risk, rare pathogenic germline variants, and family history
Purpose We aimed to investigate to what extent polygenic risk scores (PRS), rare
pathogenic germline variants (PVs), and family history jointly influence breast cancer and …
pathogenic germline variants (PVs), and family history jointly influence breast cancer and …
[HTML][HTML] A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease
Common variants of about 20 genes contributing to AD risk have so far been identified
through genome-wide association studies (GWAS). However, there is still a large proportion …
through genome-wide association studies (GWAS). However, there is still a large proportion …
[HTML][HTML] Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study
S Pachchek, Z Landoulsi, L Pavelka, C Schulte… - npj Parkinson's …, 2023 - nature.com
Heterozygous variants in the glucocerebrosidase GBA1 gene are an increasingly
recognized risk factor for Parkinson's disease (PD). Due to the GBAP1 pseudogene, which …
recognized risk factor for Parkinson's disease (PD). Due to the GBAP1 pseudogene, which …
[HTML][HTML] Genome-wide linkage analysis of families with primary hyperhidrosis
AB Schote, F Schiel, B Schmitt, U Winnikes, N Frank… - Plos one, 2020 - journals.plos.org
Primary focal hyperhidrosis (PFH, OMIM% 144110) is a genetically influenced condition
characterised by excessive sweating. Prevalence varies between 1.0–6.1% in the general …
characterised by excessive sweating. Prevalence varies between 1.0–6.1% in the general …
Excess of singleton loss-of-function variants in Parkinson's disease contributes to genetic risk
Background Parkinson's disease (PD) is a neurodegenerative disorder with complex genetic
architecture. Besides rare mutations in high-risk genes related to monogenic familial forms …
architecture. Besides rare mutations in high-risk genes related to monogenic familial forms …
[HTML][HTML] Genetic landscape of Parkinson's disease and related diseases in Luxembourg
Z Landoulsi, S Pachchek, DR Bobbili… - Frontiers in Aging …, 2023 - ncbi.nlm.nih.gov
Objectives To explore the genetic architecture of PD in the Luxembourg Parkinson's Study
including cohorts of healthy people and patients with Parkinson's disease (PD) and atypical …
including cohorts of healthy people and patients with Parkinson's disease (PD) and atypical …
Community-reviewed biological network models for toxicology and drug discovery applications
AA Namasivayam, AF Morales… - Gene regulation …, 2016 - journals.sagepub.com
Biological network models offer a framework for understanding disease by describing the
relationships between the mechanisms involved in the regulation of biological processes …
relationships between the mechanisms involved in the regulation of biological processes …
[HTML][HTML] Distinct gene-set burden patterns underlie common generalized and focal epilepsies
Background Analyses of few gene-sets in epilepsy showed a potential to unravel key
disease associations. We set out to investigate the burden of ultra-rare variants (URVs) in a …
disease associations. We set out to investigate the burden of ultra-rare variants (URVs) in a …
[HTML][HTML] Education as Risk Factor of Mild Cognitive Impairment: The Link to the Gut Microbiome
Background With differences apparent in the gut microbiome in mild cognitive impairment
(MCI) and dementia, and risk factors of dementia linked to alterations of the gut microbiome …
(MCI) and dementia, and risk factors of dementia linked to alterations of the gut microbiome …