Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of …

…, J Christodoulou, D Church, R Clima… - Molecular genetics and …, 2015 - Elsevier
Success rates for genomic analyses of highly heterogeneous disorders can be greatly
improved if a large cohort of patient data is assembled to enhance collective capabilities for …

HmtVar: a new resource for human mitochondrial variations and pathogenicity data

R Preste, O Vitale, R Clima, G Gasparre… - Nucleic acids …, 2019 - academic.oup.com
Interest in human mitochondrial genetic data is constantly increasing among both clinicians
and researchers, due to the involvement of mitochondrial DNA (mtDNA) in a number of …

HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor

R Clima, R Preste, C Calabrese… - Nucleic acids …, 2017 - academic.oup.com
The HmtDB resource hosts a database of human mitochondrial genome sequences from
individuals with healthy and disease phenotypes. The database is intended to support both …

[HTML][HTML] Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione

G Kürschner, Q Zhang, R Clima, Y Xiao, JF Busch… - Oncotarget, 2017 - ncbi.nlm.nih.gov
Renal oncocytomas are rare benign tumors of the kidney and characterized by a deficient
complex I (CI) enzyme activity of the oxidative phosphorylation (OXPHOS) system caused by …

Decreased mitochondrial DNA content drives OXPHOS dysregulation in chromophobe renal cell carcinoma

Y Xiao, R Clima, J Busch, A Rabien, E Kilic, SL Villegas… - Cancer research, 2020 - AACR
… We therefore performed a correlation analysis of proteome and transcriptome data and found
a high overall correlation between protein and mRNA levels (r = 0.671) similar to the value …

[HTML][HTML] Papillary renal cell carcinomas rewire glutathione metabolism and are deficient in both anabolic glucose synthesis and oxidative phosphorylation

AA Ahmad, V Paffrath, R Clima, JF Busch, A Rabien… - Cancers, 2019 - mdpi.com
Papillary renal cell carcinoma (pRCC) is a malignant kidney cancer with a prevalence of 7–20%
of all renal tumors. Proteome and metabolome profiles of 19 pRCC and patient-matched …

A comprehensive characterization of mitochondrial DNA mutations in glioblastoma multiforme

M Vidone, R Clima, M Santorsola, C Calabrese… - … International Journal of …, 2015 - Elsevier
Glioblastoma multiforme (GBM) is the most malignant brain cancer in adults, with a poor
prognosis, whose molecular stratification still represents a challenge in pathology and clinics. …

[HTML][HTML] Separated siamese twins: Intronic small nucleolar rnas and matched host genes may be altered in conjunction or separately in multiple cancer types

M Penzo, R Clima, D Trerè, L Montanaro - Cells, 2020 - mdpi.com
… Statistical analysis was performed using R (version 3.6.1) including R packages of data.table
for data cleaning and management, tidyr for data clean-up, and ggplot2 for data …

[HTML][HTML] A comprehensive characterization of rare mitochondrial DNA variants in neuroblastoma

FM Calabrese, R Clima, P Pignataro, VA Lasorsa… - Oncotarget, 2016 - ncbi.nlm.nih.gov
Background Neuroblastoma, a tumor of the developing sympathetic nervous system, is a
common childhood neoplasm that is often lethal. Mitochondrial DNA (mtDNA) mutations have …

Relationship between coronary plaque morphology of the left anterior descending artery and 12 months clinical outcome: the CLIMA study

…, G Ruscica, A Di Giorgio, R Vergallo… - European heart …, 2020 - academic.oup.com
Relationship between coronary plaque morphology of the left anterior descending artery and
12 months clinical outcome: the CLIMA study | European Heart Journal | Oxford Academic …