Zobrazeno 1 - 10
of 71
pro vyhledávání: '"Christos Proukakis"'
Autor:
Ester Kalef-Ezra, Zeliha Gozde Turan, Diego Perez-Rodriguez, Ida Bomann, Sairam Behera, Caoimhe Morley, Sonja W. Scholz, Zane Jaunmuktane, Jonas Demeulemeester, Fritz J. Sedlazeck, Christos Proukakis
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-10 (2024)
Abstract The presence of somatic mutations, including copy number variants (CNVs), in the brain is well recognized. Comprehensive study requires single-cell whole genome amplification, with several methods available, prior to sequencing. Here we comp
Externí odkaz:
https://doaj.org/article/33142598378f4a9a88091ba6a21379f4
Autor:
Marco Toffoli, Xiao Chen, Fritz J. Sedlazeck, Chiao-Yin Lee, Stephen Mullin, Abigail Higgins, Sofia Koletsi, Monica Emili Garcia-Segura, Esther Sammler, Sonja W. Scholz, Anthony H. V. Schapira, Michael A. Eberle, Christos Proukakis
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-10 (2022)
Two methods fully resolve the GBA gene: Gauchian, a tool for short-read, whole-genome sequencing data analysis, and Oxford Nanopore sequencing after PCR enrichment. The approach improves our understanding of the relationship between GBA, Gaucher dise
Externí odkaz:
https://doaj.org/article/a0746cc364f6419ea69ad609de6e4f87
Autor:
Diego Perez-Rodriguez, Maria Kalyva, Melissa Leija-Salazar, Tammaryn Lashley, Maxime Tarabichi, Viorica Chelban, Steve Gentleman, Lucia Schottlaender, Hannah Franklin, George Vasmatzis, Henry Houlden, Anthony H. V. Schapira, Thomas T. Warner, Janice L. Holton, Zane Jaunmuktane, Christos Proukakis
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-22 (2019)
Abstract Synucleinopathies are mostly sporadic neurodegenerative disorders of partly unexplained aetiology, and include Parkinson’s disease (PD) and multiple system atrophy (MSA). We have further investigated our recent finding of somatic SNCA (α-
Externí odkaz:
https://doaj.org/article/7ef14b0631654f92929d5d083479b9c2
Autor:
Christos Proukakis
Publikováno v:
Neurobiology of Disease, Vol 144, Iss , Pp 105021- (2020)
Mosaicism, the presence of genomic differences between cells due to post-zygotic somatic mutations, is widespread in the human body, including within the brain. A role for this in neurodegenerative diseases has long been hypothesised, and technical d
Externí odkaz:
https://doaj.org/article/6ea458a45891484d8b357bc8e695c577
Autor:
Melissa Leija-Salazar, Alan Pittman, Katya Mokretar, Huw Morris, Anthony H. Schapira, Christos Proukakis
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Background: Somatic single nucleotide variant (SNV) mutations occur in neurons but their role in synucleinopathies is unknown.Aim: We aimed to identify disease-relevant low-level somatic SNVs in brains from sporadic patients with synucleinopathies an
Externí odkaz:
https://doaj.org/article/6cdfc4a8aaf24f0893c207d6c678e415
Autor:
Lesley M Chapman, Noah Spies, Patrick Pai, Chun Shen Lim, Andrew Carroll, Giuseppe Narzisi, Christopher M Watson, Christos Proukakis, Wayne E Clarke, Naoki Nariai, Eric Dawson, Garan Jones, Daniel Blankenberg, Christian Brueffer, Chunlin Xiao, Sree Rohit Raj Kolora, Noah Alexander, Paul Wolujewicz, Azza E Ahmed, Graeme Smith, Saadlee Shehreen, Aaron M Wenger, Marc Salit, Justin M Zook
Publikováno v:
PLoS Computational Biology, Vol 16, Iss 6, p e1007933 (2020)
A high quality benchmark for small variants encompassing 88 to 90% of the reference genome has been developed for seven Genome in a Bottle (GIAB) reference samples. However a reliable benchmark for large indels and structural variants (SVs) is more c
Externí odkaz:
https://doaj.org/article/b08f9ccca37e4727afc897d6fa521024
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Mutations in the PARK2 gene have been implicated in the pathogenesis of early-onset Parkinson's disease. We present a case of movement disorder in a 4-year-old child from consanguineous parents and with a family history of Dopamine responsive dystoni
Externí odkaz:
https://doaj.org/article/e994b5e6111e47dfb8210ae8f079848b
Autor:
Elizabeth Nacheva, Katya Mokretar, Aynur Soenmez, Alan M Pittman, Colin Grace, Roberto Valli, Ayesha Ejaz, Selina Vattathil, Emanuela Maserati, Henry Houlden, Jan-Willem Taanman, Anthony H Schapira, Christos Proukakis
Publikováno v:
PLoS ONE, Vol 12, Iss 7, p e0180467 (2017)
Potential bias introduced during DNA isolation is inadequately explored, although it could have significant impact on downstream analysis. To investigate this in human brain, we isolated DNA from cerebellum and frontal cortex using spin columns under
Externí odkaz:
https://doaj.org/article/85a2ca19810844f4bdb02cb93582722d
Publikováno v:
Methods in Molecular Biology ISBN: 9781071626542
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::295bc51a0cc7de121682bc8ddf933e81
https://doi.org/10.1007/978-1-0716-2655-9_11
https://doi.org/10.1007/978-1-0716-2655-9_11
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 2561
The evidence for a role of somatic mutations, including copy-number variants (CNVs), in neurodegeneration has increased in the last decade. However, the understanding of the types and origins of these mutations, and their exact contributions to disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cf03585a04a035973ef013a12c2dda8f
https://pubmed.ncbi.nlm.nih.gov/36399272
https://pubmed.ncbi.nlm.nih.gov/36399272