Zobrazeno 1 - 10
of 63
pro vyhledávání: '"M. Chiara Manzini"'
Autor:
Muthukumar Karuppasamy, Katherine G. English, Clarissa A. Henry, M. Chiara Manzini, John M. Parant, Melissa A. Wright, Avnika A. Ruparelia, Peter D. Currie, Vandana A. Gupta, James J. Dowling, Lisa Maves, Matthew S. Alexander
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 1 (2024)
Externí odkaz:
https://doaj.org/article/4f13b14e9c2a4d84a3835d5d9afdf89d
Autor:
Jenica Acheta, Jiayue Hong, Haley Jeanette, Simrandeep Brar, Anish Yalamanchili, M. Laura Feltri, M. Chiara Manzini, Sophie Belin, Yannick Poitelon
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
BackgroundNumerous studies have indicated that myelination is the result of the interplay between extracellular signals and an intricate network of transcription factors. Yet, the identification and characterization of the full repertoire of transcri
Externí odkaz:
https://doaj.org/article/6164e2ecf76c4132ab4032d311c7f30e
Publikováno v:
Frontiers in Chemistry, Vol 10 (2022)
Understanding the biochemistry of the cell requires measurement of all the molecules it produces. Single-cell proteomics recently became possible through advances in microanalytical sample preparation, separation by nano-flow liquid chromatography (n
Externí odkaz:
https://doaj.org/article/1efe54cd0f7d43bf80bf51443d89b8ad
Autor:
Edmund S. Cauley, Alan Pittman, Swati Mummidivarpu, Ehsan G. Karimiani, Samantha Martinez, Isabella Moroni, Reza Boostani, Daniele Podini, Marina Mora, Yalda Jamshidi, Eric P. Hoffman, M. Chiara Manzini
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Abstract Background Congenital muscular dystrophy type 1A (MDC1A), also termed merosin‐deficient congenital muscular dystrophy (CMD), is a severe form of CMD caused by mutations in the laminin α2 gene (LAMA2). Of the more than 300 likely pathogeni
Externí odkaz:
https://doaj.org/article/30bb022ab7354e7990f235b44b44dd59
Autor:
Chiara Ardiccioni, Oliver B. Clarke, David Tomasek, Habon A. Issa, Desiree C. von Alpen, Heather L. Pond, Surajit Banerjee, Kanagalaghatta R. Rajashankar, Qun Liu, Ziqiang Guan, Chijun Li, Brian Kloss, Renato Bruni, Edda Kloppmann, Burkhard Rost, M. Chiara Manzini, Lawrence Shapiro, Filippo Mancia
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-9 (2016)
Polyisoprenyl-glycosyltransferases (PI-GTs) catalyse the addition of sugar to lipid carriers, which is the first step in the production of sugar donors for glycosylation. Here Ardiccioni et al.present the structure of a bacterial PI-GT and propose a
Externí odkaz:
https://doaj.org/article/22db754dc74e4afeb71d8dce6eff183f
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Hundreds of genes are mutated in non-syndromic intellectual disability (ID) and autism spectrum disorder (ASD), with each gene often involved in only a handful of cases. Such heterogeneity can be daunting, but rare recessive loss of function (LOF) mu
Externí odkaz:
https://doaj.org/article/df478973ae3a4535b3b5a97bda677f3f
Autor:
M. Chiara Manzini, Lan Xiong, Ranad Shaheen, Dimira E. Tambunan, Stefania Di Costanzo, Vanessa Mitisalis, David J. Tischfield, Antonella Cinquino, Mohammed Ghaziuddin, Mehtab Christian, Qin Jiang, Sandra Laurent, Zohair A. Nanjiani, Saima Rasheed, R. Sean Hill, Sofia B. Lizarraga, Danielle Gleason, Diya Sabbagh, Mustafa A. Salih, Fowzan S. Alkuraya, Christopher A. Walsh
Publikováno v:
Cell Reports, Vol 8, Iss 3, Pp 647-655 (2014)
Autism spectrum disorder (ASD) and intellectual disability (ID) are often comorbid, but the extent to which they share common genetic causes remains controversial. Here, we present two autosomal-recessive “founder” mutations in the CC2D1A gene ca
Externí odkaz:
https://doaj.org/article/9cd4b10c06d8453cacf637629adde985
Autor:
Dhyanam Shukla, Brian M. Gural, Edmund S. Cauley, Namarata Battula, Shorbon Mowla, Brittany F. Karas, Llion E. Roberts, Luca Cavallo, Luka Turkalj, Sally A. Moody, Laura E. Swan, M. Chiara Manzini
Publikováno v:
Development Genes and Evolution.
One hurdle in the development of zebrafish models of human disease is the presence of multiple zebrafish orthologs resulting from whole genome duplication in teleosts. Mutations in inositol polyphosphate 5-phosphatase K (INPP5K) lead to a syndrome ch
Autor:
Brittany F. Karas, Kristin R. Terez, Namarata Battula, Brian M. Gural, Kyle P. Flannery, Grace Aboussleman, Numa Mubin, M. Chiara Manzini
Biallelic mutations inProtein O-mannosyltransferase 1(POMT1) are among the most common causes of a severe group of congenital muscular dystrophies (CMDs) known as dystroglycanopathies. POMT1 is a glycosyltransferase responsible for the attachment of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3013ee6e2cb2aa1b2e94b35ebfb33ff6
https://doi.org/10.1101/2022.10.15.512359
https://doi.org/10.1101/2022.10.15.512359
Autor:
Dhyanam Shukla, Brian M. Gural, Edmund S. Cauley, Llion E. Roberts, Brittany F. Karas, Luca Cavallo, Luka Turkalj, Sally A. Moody, Laura E. Swan, M. Chiara Manzini
One hurdle in the development of zebrafish models of human disease is the presence of multiple zebrafish orthologs resulting from whole genome duplication in teleosts. Mutations in Inositol polyphosphate 5-phosphatase K (INPP5K) lead to a syndrome ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::39ae5dc5c18ad88dcbe73fce5ba656cb
https://doi.org/10.1101/2022.08.31.506059
https://doi.org/10.1101/2022.08.31.506059