Výsledky vyhledávání - "Ranjit Singh Atwal"

Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550

Autor: Yejin Lee, Hyeongju Kim, Douglas Barker, Ravi Vijayvargia, Ranjit Singh Atwal, Harrison Specht, Hasmik Keshishian, Steven A Carr, Ramee Lee, Seung Kwak, Kyung-gi Hyun, Jacob Loupe, Marcy E MacDonald, Ji-Joon Song, Ihn Sik Seong

Publikováno v: Human Molecular Genetics. 32:30-45

Huntington’s disease (HD) is a neurodegenerative disorder caused by an inherited unstable HTT CAG repeat that expands further, thereby eliciting a disease process that may be initiated by polyglutamine-expanded huntingtin or a short polyglutamine-p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b194f96d4acbd54d3d19354cfdd3186
https://doi.org/10.1093/hmg/ddac165

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Modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550

Huntington’s disease (HD) is a neurodegerative disorder caused by an inherited unstable HTT CAG repeat that expands further, thereby eliciting a disease process that may be initiated by polyglutamine-expanded huntingtin or a short polyglutamine-pro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::75f61108ea8aca833c9e8e65fabbf556
https://doi.org/10.1101/2022.05.04.490694

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A systematic review of the timing of intubation in patients with traumatic brain injury: pre-hospital versus in-hospital intubation

Autor: Archchana Radhakrishnan, Claire McCahill, Ranjit Singh Atwal, Sumitra Lahiri

Publikováno v: European journal of trauma and emergency surgery : official publication of the European Trauma Society.

The objective of this systematic review was to examine current evidence on the risks versus benefit of pre-hospital intubation when compared with in-hospital intubation in adult patients with traumatic brain injuries.We conducted electronic searches

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1e203a30b9ef4e88316a4685ed95f81
https://pubmed.ncbi.nlm.nih.gov/35962218

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Bioenergetic deficits in Huntington's disease iPSC-derived neural cells and rescue with glycolytic metabolites

Publikováno v: Human Molecular Genetics

Altered cellular metabolism is believed to be an important contributor to pathogenesis of the neurodegenerative disorder Huntington’s disease (HD). Research has primarily focused on mitochondrial toxicity, which can cause death of the vulnerable st

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57ba2a92baf49dc7f08b70392e7573cf
https://pubmed.ncbi.nlm.nih.gov/30768179

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Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels

Autor: Ihn Sik Seong, Kyung Hee Kim, Aram Shin, Jennifer M. Hope, James F. Gusella, Marcy E. MacDonald, Jong-Min Lee, John D. Leszyk, Tammy Gillis, Scott A. Shaffer, Seung Kwak, Baehyun Shin, Ramee Lee, Ranjit Singh Atwal, Jun-Wan Shin

Huntington's disease (HD) reflects dominant consequences of a CAG repeat expansion mutation in HTT. Expanded CAG repeat size is the primary determinant of age at onset and age at death in HD. Although HD pathogenesis is driven by the expanded CAG rep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fff8cdd7076b378fc483dd68c76b8c4
https://europepmc.org/articles/PMC6075029/

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Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9

Autor: Kyung Hee Kim, Ranjit Singh Atwal, Jong-Min Lee, Tammy Gillis, James F. Gusella, Jun-Wan Shin, Michael J. Chao, Marcy E. MacDonald

Publikováno v: Human Molecular Genetics. :ddw286

A comprehensive genetics-based precision medicine strategy to selectively and permanently inactivate only mutant, not normal allele, could benefit many dominantly inherited disorders. Here, we demonstrate the power of our novel strategy of inactivati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::693d7d71da1da0e707bad06d46028f9c
https://doi.org/10.1093/hmg/ddw286

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Induced pluripotent stem cells from patients with Huntington's disease show CAG-repeat-expansion-associated phenotypes

Autor: Erin Watkin, Jian Hong Li, Guo Li Ming, Marco Onorati, Ranjit Singh Atwal, James A. Thomson, Vanessa C. Wheeler, Robert N. Cole, Amanda R. Mason, Woon Roung Kim, Nicholas D. Allen, Tammy Gillis, Gayani Batugedara, Allison D. Ebert, Yu Zhu, Alvin R. King, Jason H. Chiang, Peter J. Donovan, Julia A. Kaye, Jamshid Arjomand, Christopher A. Ross, Junying Yu, Marquis P. Vawter, Sara T. Winokur, Amanda Redfern, Sergey S Akimov, Georgia Makri, Stephen P. Brazier, Alysia Battersby, Xiaoli Chen, Valentina Castiglioni, Aaron C. Daub, Punita Sharma, Elisa Fossale, Clive N. Svendsen, Ihn Sik Seong, James F. Gusella, Malcolm Casale, Tamara Ratovitski, Paul J. Kemp, Nicolas Arbez, Hongjun Song, Elena Cattaneo, Leslie M. Thompson, Jayalakshmi S. Mysore, Virginia B. Mattis, Leslie F. Lock, Russell L. Margolis, Soshana P. Svendsen, David Rushton, Yiping Shen, Chun Zhong, Steven Finkbeiner, Tarja A. Juopperi, Marcy E. MacDonald, Hsui Er Tseng, Alexander William John Harrison, Eka Chighladze

Publikováno v: Cell stem cell. 11(2)

SummaryHuntington's disease (HD) is an inherited neurodegenerative disorder caused by an expanded stretch of CAG trinucleotide repeats that results in neuronal dysfunction and death. Here, The HD Consortium reports the generation and characterization

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::220351e85ee7daa05622d72e75cf00ea
https://pubmed.ncbi.nlm.nih.gov/22748968

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A11 Induced pluripotent stem cells for basic and translational research on HD

Autor: Peter J. Donovan, Julia A. Kaye, Guo Li Ming, Yiping Shen, Tammy Gillis, Steven Finkbeiner, Tarja A. Juopperi, Y Zhu, James A. Thomson, Allison D. Ebert, E Chighladze, J-h Li, Amanda R. Mason, Christopher A. Ross, Paul J. Kemp, Junying Yu, JH Chiang, Stephen P. Brazier, Alexander William John Harrison, Ranjit Singh Atwal, Ihn Sik Seong, Valentina Castiglioni, Chun Zhong, James F. Gusella, Leslie F. Lock, Elena Cattaneo, Nicolas Arbez, H-E Tseng, RN Cole, WR Kim, Marquis P. Vawter, Elisa Fossale, Hongjun Song, Gayani Batugedara, Georgia Makri, Tamara Ratovitski, Clive N. Svendsen, Alysia Battersby, Virginia B. Mattis, E Watkin, Malcolm Casale, Ar King, Aaron C. Daub, Punita Sharma, Amanda Redfern, Jayalakshmi S. Mysore, Leslie M. Thompson, Russell L. Margolis, Soshana P. Svendsen, David Rushton, Sergey S Akimov, Marco Onorati, Nicholas D. Allen, Vanessa C. Wheeler, Marcy E. MacDonald, Jamshid Arjomand, Sara T. Winokur, X Chen

Publikováno v: Journal of Neurology, Neurosurgery & Psychiatry. 83:A3.2-A4

Background The expression of mutant HTT leads to many cellular alterations, including abnormal vesicle recycling, loss of signalling by brain-derived neurotrophic factor, excitotoxicity, perturbation of Ca 2+ signalling, decreases in intracellular AT

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cc83aaf4fe0cb7630cafcdd3d79831f9
https://doi.org/10.1136/jnnp-2012-303524.11

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