Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Heather L. Pond"'
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:
Molly K. Wilkinson, Abigail T. Heller, Brian M Gural, Heather L. Pond, M. Chiara Manzini, Olivia P. McKissick
Publikováno v:
J Neurosci Res
Digging behavior is often used to test motor function and repetitive behaviors in mice. Different digging paradigms have been developed for behaviors related to anxiety and compulsion in mouse lines generated to recapitulate genetic mutations leading
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6fc8073f267fb9d2946cf449ed9228b
https://pubmed.ncbi.nlm.nih.gov/34048600
https://pubmed.ncbi.nlm.nih.gov/34048600
Autor:
Heather L. Pond, Brian M Gural, Molly K. Wilkinson, Olivia P. McKissick, M. Chiara Manzini, Abigail T. Heller
Digging behavior is often used to test motor function and repetitive behaviors in mice. Different digging paradigms have been developed for behaviors related to anxiety and compulsion in mouse lines generated to recapitulate genetic mutations leading
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::00807fd6adbc92fece8532259aedb343
https://doi.org/10.1101/2020.12.29.424478
https://doi.org/10.1101/2020.12.29.424478
Autor:
M. Chiara Manzini, Adam W. Oaks, Pablo Muñoz-Llancao, Molly K. Wilkinson, Heather L. Pond, Adele Mossa, Marta Zamarbide
Publikováno v:
Biol Psychiatry
Background The prevalence of neurodevelopmental disorders is biased toward male individuals, with male-to-female ratios of 2:1 in intellectual disability and 4:1 in autism spectrum disorder. However, the molecular mechanisms of such bias remain unkno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0d572cbafec73b7c0a520f17e94798b
https://europepmc.org/articles/PMC6474812/
https://europepmc.org/articles/PMC6474812/
Autor:
Heather L. Pond, Christopher A. Walsh, Jeff Lin, Emanuela Santini, Mark W. Johnson, Eric Klann, Marta Zamarbide, Dilenny M. Gonzalez, Jessica F. Boehler, Guangying K. Wu, M. Chiara Manzini, Adam W. Oaks, Dimira E. Tambunan, Stefania Di Costanzo
Publikováno v:
Cerebral Cortex. 27:1670-1685
Loss-of-function (LOF) mutations in CC2D1A cause a spectrum of neurodevelopmental disorders, including intellectual disability, autism spectrum disorder, and seizures, identifying a critical role for this gene in cognitive and social development. CC2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b21e68bc4515fece8b54173b4123f28
https://doi.org/10.1093/cercor/bhw009
https://doi.org/10.1093/cercor/bhw009
Publikováno v:
Frontiers in Genetics
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://explore.openaire.eu/search/publication?articleId=pmid________::074818762922c87aaf64d92dd811608a
https://pubmed.ncbi.nlm.nih.gov/29552027
https://pubmed.ncbi.nlm.nih.gov/29552027
Autor:
Maria Barbara Pasanisi, Reza Azizi Malamiri, Elizabeth A. Sellars, Edmund Cauley, Rebecca Willaert, Laura E. Swan, Jeremy Dejardin, Khaloob Mushref, M. Chiara Manzini, Isabella Moroni, Francesco J. Conti, R. Sean Hill, Daniel P. S. Osborn, Marina Mora, Neda Mazaheri, Hamid Galehdari, Yalda Jamshidi, Reza Maroofian, Christopher J. Munn, Gholamreza Shariati, Jennifer N. Partlow, Thomas Voit, Heather L. Pond, Jaipreet Bharj
Congenital muscular dystrophies display a wide phenotypic and genetic heterogeneity. The combination of clinical, biochemical, and molecular genetic findings must be considered to obtain the precise diagnosis and provide appropriate genetic counselli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47e63b7a3c263b7b178152b93a8dfd80
https://openaccess.sgul.ac.uk/id/eprint/108451/13/1-s2.0-S0002929717300198-main.pdf
https://openaccess.sgul.ac.uk/id/eprint/108451/13/1-s2.0-S0002929717300198-main.pdf
Autor:
Anuradha Balasubramanian, Chiara Pantaleoni, Marina Mora, Peter B. Kang, M. Chiara Manzini, Mustafa A. Salih, Christine M. Sunu, Stefania Di Costanzo, Anete Rozkalne, Heather L. Pond, Emanuela Gussoni, Christopher A. Walsh, Timothy W. Yu, Vandana Gupta, Simona Saredi
Publikováno v:
Human Molecular Genetics. 23:5781-5792
Dystroglycan is a transmembrane glycoprotein whose interactions with the extracellular matrix (ECM) are necessary for normal muscle and brain development, and disruptions of its function lead to dystroglycanopathies, a group of congenital muscular dy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca2a3ab5db7f74233828b78202d7b5af
https://doi.org/10.1093/hmg/ddu296
https://doi.org/10.1093/hmg/ddu296
Autor:
Lawrence Shapiro, Surajit Banerjee, Désirée von Alpen, Qun Liu, Renato Bruni, M. Chiara Manzini, Oliver B. Clarke, Edda Kloppmann, Chijun Li, Chiara Ardiccioni, Burkhard Rost, Filippo Mancia, Heather L. Pond, Brian Kloss, David Tomasek, Ziqiang Guan, Kanagalaghatta R. Rajashankar, Habon Issa
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-9 (2016)
Nature Communications
Nature Communications
The attachment of a sugar to a hydrophobic polyisoprenyl carrier is the first step for all extracellular glycosylation processes. The enzymes that perform these reactions, polyisoprenyl-glycosyltransferases (PI-GTs) include dolichol phosphate mannose
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b307dd73b28929f5b608d3f44079532
https://doi.org/10.1038/ncomms10175
https://doi.org/10.1038/ncomms10175