User profiles for "author:Dheeraj Reddy Bobbili"

Dheeraj Reddy Bobbili

Wellytics | 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 …

[HTML][HTML] Breast and prostate cancer risk: The interplay of polygenic risk, rare pathogenic germline variants, and family history

E Hassanin, P May, R Aldisi, I Spier, AJ Forstner… - Genetics in …, 2022 - Elsevier
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 …

[HTML][HTML] A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease

D Hartl, P May, W Gu, M Mayhaus, S Pichler… - Molecular …, 2020 - nature.com
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 …

[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 …

[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 …

Excess of singleton loss-of-function variants in Parkinson's disease contributes to genetic risk

DR Bobbili, P Banda, R Krüger, P May - Journal of medical genetics, 2020 - jmg.bmj.com
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 …

[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 …

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 …

[HTML][HTML] Distinct gene-set burden patterns underlie common generalized and focal epilepsies

M Koko, R Krause, T Sander, DR Bobbili… - …, 2021 - thelancet.com
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 …

[HTML][HTML] Education as Risk Factor of Mild Cognitive Impairment: The Link to the Gut Microbiome

M Klee, VTE Aho, P May, A Heintz-Buschart… - The Journal of …, 2024 - Springer
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 …