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Select item 109528451.

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

Jussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, David Sims, Meriel McEntagart, Frances Elmslie, Debbie Shears, Helen Stewart, George K. Tofaris, Tabib Dabir, Patrick J. Morrison, Diana Johnson, Marios Hadjivassiliou, Sian Ellard, Charles Shaw‐Smith, Anna Znaczko, Abhijit Dixit, Mohnish Suri, Ajoy Sarkar, Rachel E. Harrison, Gabriela Jones, Henry Houlden, Giorgia Ceravolo, Joanna Jarvis, Jonathan Williams, Morag E. Shanks, Penny Clouston, Julia Rankin, Lubov Blumkin, Tally Lerman‐Sagie, Penina Ponger, Salmo Raskin, Katariina Granath, Johanna Uusimaa, Hector Conti, Emma McCann, Shelagh Joss, Alexander J.M. Blakes, Kay Metcalfe, Helen Kingston, Marta Bertoli, Rachel Kneen, Sally Ann Lynch, Inmaculada Martínez Albaladejo, Austen Peter Moore, Wendy D. Jones, Genomics England Research Consortium, Esther B.E. Becker, Andrea H. Németh

Mov Disord. 2024 Jan; 39(1): 141–151. Published online 2023 Nov 14. doi: 10.1002/mds.29651

PMCID:: PMC10952845

Abstract Article PDF–3.0M

Select item 85624262.

A Novel De Novo Intronic Variant in ITPR1 Causes Gillespie Syndrome

Laura Keehan, Ming-Ming Jiang, Xiaohui Li, Ronit Marom, Hongzheng Dai, David Murdock, Pengfei Liu, Jill Hunter, Jason D. Heaney, Laurie Robak, Lisa Emrick, Tim Lotze, Lauren Blieden, Undiagnosed Diseases Network, Richard Alan Lewis, Alex V. Levin, Jenina Capasso, William Craigen, Jill A. Rosenfeld, Brendan Lee, Lindsay C. Burrage

Am J Med Genet A. Author manuscript; available in PMC 2022 Aug 1.

Published in final edited form as: Am J Med Genet A. 2021 Aug; 185(8): 2315–2324. Published online 2021 May 5. doi: 10.1002/ajmg.a.62232

PMCID:: PMC8562426

Abstract Article PDF–467K

Select item 82434043.

Inositol Trisphosphate Receptors and Nuclear Calcium in Atrial Fibrillation

Xiao-Yan Qi, Faezeh Vahdahi Hassani, Dennis Hoffmann, Jiening Xiao, Feng Xiong, Louis R. Villeneuve, Senka Ljubojevic-Holzer, Markus Kamler, Issam Abu-Taha, Jordi Heijman, Donald M. Bers, Dobromir Dobrev, Stanley Nattel

Circ Res. Author manuscript; available in PMC 2022 Mar 5.

Published in final edited form as: Circ Res. 2021 Mar 5; 128(5): 619–635. Published online 2020 Dec 30. doi: 10.1161/CIRCRESAHA.120.317768

PMCID:: PMC8243404

Abstract Article PDF–3.9M

Select item 63025504.

IP₃ Receptors Preferentially Associate with ER-Lysosome Contact Sites and Selectively Deliver Ca²⁺ to Lysosomes

Peace Atakpa, Nagendra Babu Thillaiappan, Stefania Mataragka, David L. Prole, Colin W. Taylor

Cell Rep. 2018 Dec 11; 25(11): 3180–3193.e7. Published online 2018 Dec 11. doi: 10.1016/j.celrep.2018.11.064

PMCID:: PMC6302550

Abstract Article PDF–5.5M

Select item 62755035.

Aberrant IP₃ receptor activities revealed by comprehensive analysis of pathological mutations causing spinocerebellar ataxia 29

Hideaki Ando, Matsumi Hirose, Katsuhiko Mikoshiba

Proc Natl Acad Sci U S A. 2018 Nov 27; 115(48): 12259–12264. Published online 2018 Nov 14. doi: 10.1073/pnas.1811129115

PMCID:: PMC6275503

Abstract Article PDF–1.6M

Select item 61891126.

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

Matthis Synofzik, Katherine L. Helbig, Florian Harmuth, Tine Deconinck, Pranoot Tanpaiboon, Bo Sun, Wenting Guo, Ruiwu Wang, Erika Palmaer, Sha Tang, G. Bradley Schaefer, Janina Gburek-Augustat, Stephan Züchner, Ingeborg Krägeloh-Mann, Jonathan Baets, Peter de Jonghe, Peter Bauer, S. R. Wayne Chen, Ludger Schöls, Rebecca Schüle

Eur J Hum Genet. 2018 Nov; 26(11): 1623–1634. Published online 2018 Jun 20. doi: 10.1038/s41431-018-0206-3

PMCID:: PMC6189112

Abstract Article PDF–2.0M

Select item 57067507.

Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias

Cheng-Tsung Hsiao, Yo-Tsen Liu, Yi-Chu Liao, Ting-Yi Hsu, Yi-Chung Lee, Bing-Wen Soong

PLoS One. 2017; 12(11): e0187503. Published online 2017 Nov 29. doi: 10.1371/journal.pone.0187503

Correction in:: PLoS One. 2018; 13(2): e0192866.

PMCID:: PMC5706750

Abstract Article PDF–3.5M

Select item 56861158.

Ca²⁺ signals initiate at immobile IP₃ receptors adjacent to ER-plasma membrane junctions

Nagendra Babu Thillaiappan, Alap P. Chavda, Stephen C. Tovey, David L. Prole, Colin W. Taylor

Nat Commun. 2017; 8: 1505. Published online 2017 Nov 15. doi: 10.1038/s41467-017-01644-8

PMCID:: PMC5686115

Abstract Article PDF–9.6M

Select item 55200669.

A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers

Joakim Klar, Zafar Ali, Muhammad Farooq, Kamal Khan, Johan Wikström, Maria Iqbal, Shumaila Zulfiqar, Sanam Faryal, Shahid Mahmood Baig, Niklas Dahl

Eur J Hum Genet. 2017 Jul; 25(7): 848–853. Published online 2017 May 10. doi: 10.1038/ejhg.2017.54

PMCID:: PMC5520066

Abstract Article PDF–1.3M

Select item 537849310.

Spinocerebellar Ataxia 15: A Phenotypic Review and Expansion

Philip W. Tipton, Kimberly Guthrie, Audrey Strongosky, Ronald Reimer, Zbigniew Wszolek

Neurol Neurochir Pol. Author manuscript; available in PMC 2018 Jan 1.

Published in final edited form as: Neurol Neurochir Pol. 2017 Jan-Feb; 51(1): 86–91. Published online 2016 Nov 10. doi: 10.1016/j.pjnns.2016.10.006

PMCID:: PMC5378493

Abstract Article PDF–416K

Select item 501920211.

IP₃ receptors: take four IP₃ to open

Colin W Taylor, Vera Konieczny

Sci Signal. Author manuscript; available in PMC 2016 Oct 5.

Published in final edited form as: Sci Signal. 2016 Apr 5; 9(422): pe1. Published online 2016 Apr 5. doi: 10.1126/scisignal.aaf6029

PMCID:: PMC5019202

Abstract Article PDF–976K

Select item 486356612.

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

Sylvie Gerber, Kamil J. Alzayady, Lydie Burglen, Dominique Brémond-Gignac, Valentina Marchesin, Olivier Roche, Marlène Rio, Benoit Funalot, Raphaël Calmon, Alexandra Durr, Vera Lucia Gil-da-Silva-Lopes, Maria Fernanda Ribeiro Bittar, Christophe Orssaud, Bénédicte Héron, Edward Ayoub, Patrick Berquin, Nadia Bahi-Buisson, Christine Bole, Cécile Masson, Arnold Munnich, Matias Simons, Marion Delous, Helene Dollfus, Nathalie Boddaert, Stanislas Lyonnet, Josseline Kaplan, Patrick Calvas, David I. Yule, Jean-Michel Rozet, Lucas Fares Taie

Am J Hum Genet. 2016 May 5; 98(5): 971–980. Published online 2016 Apr 21. doi: 10.1016/j.ajhg.2016.03.004

PMCID:: PMC4863566

Abstract Article PDF–1.3M

Select item 485055113.

Defining the Stoichiometry of Inositol 1,4,5-Trisphosphate Binding Required to Initiate Ca²⁺ Release

Kamil J. Alzayady, Liwei Wang, Rahul Chandrasekhar, Larry E. Wagner, II, Filip Van Petegem, David I. Yule

Sci Signal. Author manuscript; available in PMC 2016 Apr 29.

Published in final edited form as: Sci Signal. 2016; 9(422): ra35. Published online 2016 Apr 5. doi: 10.1126/scisignal.aad6281

PMCID:: PMC4850551

Abstract Article PDF–1.3M

Select item 430061714.

Antibodies to the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) in cerebellar ataxia

Sven Jarius, Madeleine Scharf, Nora Begemann, Winfried Stöcker, Christian Probst, Irina I Serysheva, Sigrun Nagel, Francesc Graus, Dimitri Psimaras, Brigitte Wildemann, Lars Komorowski

J Neuroinflammation. 2014; 11: 206. Published online 2014 Dec 11. doi: 10.1186/s12974-014-0206-3

PMCID:: PMC4300617

Abstract Article PDF–2.7M

Select item 357285115.

Regulation of calcium signals in the nucleus by a nucleoplasmic reticulum

Wihelma Echevarría, M. Fatima Leite, Mateus T. Guerra, Warren R. Zipfel, Michael H. Nathanson

Nat Cell Biol. Author manuscript; available in PMC 2013 Feb 14.

Published in final edited form as: Nat Cell Biol. 2003 May; 5(5): 440–446. doi: 10.1038/ncb980

PMCID:: PMC3572851

Abstract Article PDF–2.3M

Select item 354726116.

Protein S-glutathionylation enhances Ca²⁺-induced Ca²⁺ release via the IP₃ receptor in cultured aortic endothelial cells

Jeffrey T Lock, William G Sinkins, William P Schilling

J Physiol. 2012 Aug 1; 590(Pt 15): 3431–3447. Published online 2012 May 28. doi: 10.1113/jphysiol.2012.230656

PMCID:: PMC3547261

Abstract Article PDF–1.6M

Select item 354596617.

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Lijia Huang, Jodi Warman Chardon, Melissa T Carter, Kathie L Friend, Tracy E Dudding, Jeremy Schwartzentruber, Ruobing Zou, Peter W Schofield, Stuart Douglas, Dennis E Bulman, Kym M Boycott

Orphanet J Rare Dis. 2012; 7: 67. Published online 2012 Sep 17. doi: 10.1186/1750-1172-7-67

Correction in:: Orphanet J Rare Dis. 2022; 17: 143.

PMCID:: PMC3545966

Abstract Article PDF–1.1M

Select item 341360418.

Role of the inositol 1,4,5-trisphosphate receptor/Ca²⁺-release channel in autophagy

Jan B Parys, Jean-Paul Decuypere, Geert Bultynck

Cell Commun Signal. 2012; 10: 17. Published online 2012 Jul 6. doi: 10.1186/1478-811X-10-17

PMCID:: PMC3413604

Abstract Article PDF–348K

Select item 286495519.

Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series

J van de Leemput, F Wavrant-De Vrièze, I Rafferty, JM Bras, P Giunti, EMC Fisher, J Hardy, AB Singleton, H Houlden

Mov Disord. Author manuscript; available in PMC 2011 Apr 30.

Published in final edited form as: Mov Disord. 2010 Apr 30; 25(6): 763–765. doi: 10.1002/mds.22970

PMCID:: PMC2864955

Abstract Article PDF–294K

Select item 275457620.

Cloning and Characterization of the Type I Inositol 1,4,5-Trisphosphate Receptor Gene Promoter: REGULATION BY 17β-ESTRADIOL IN OSTEOBLASTS

Keith L. Kirkwood, Kristen Homick, Marc B. Dragon, Peter G. Bradford

J Biol Chem. Author manuscript; available in PMC 2009 Sep 30.

Published in final edited form as: J Biol Chem. 1997 Sep 5; 272(36): 22425–22431. doi: 10.1074/jbc.272.36.22425

PMCID:: PMC2754576

Abstract Article PDF–1.5M

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