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Items: 1 to 20 of 24

1.
Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans
Joyce van de Leemput, Jayanth Chandran, Melanie A Knight, Lynne A Holtzclaw, Sonja Scholz, Mark R Cookson, Henry Houlden, Katrina Gwinn-Hardy, Hon-Chung Fung, Xian Lin, Dena Hernandez, Javier Simon-Sanchez, Nick W Wood, Paola Giunti, Ian Rafferty, John Hardy, Elsdon Storey, R. J. McKinlay Gardner, Susan M Forrest, Elizabeth M. C Fisher, James T Russell, Huaibin Cai, Andrew B Singleton
PLoS Genet. 2007 Jun; 3(6): e108. Prepublished online 2007 May 16. Published online 2007 Jun 22. doi: 10.1371/journal.pgen.0030108
PMCID:
PMC1892049
AbstractArticlePDF–355K
2.
MRI Findings in a Patient with Known SCAR-16 Type STUB1 Associated Cerebellar Ataxia
Alexander Thorvaldsson, Pir Abdul Ahad Aziz Qureshi, Vikram rao Bollineni
J Belg Soc Radiol. 2022; 106(1): 131. Published online 2022 Dec 14. doi: 10.5334/jbsr.2902
PMCID:
PMC9756905
AbstractArticlePDF–907K
3.
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
AbstractArticlePDF–416K
4.
In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins
Yasaman Pakdaman, Monica Sanchez-Guixé, Rune Kleppe, Sigrid Erdal, Helene J. Bustad, Lise Bjørkhaug, Kristoffer Haugarvoll, Charalampos Tzoulis, Ketil Heimdal, Per M. Knappskog, Stefan Johansson, Ingvild Aukrust
Biosci Rep. 2017 Apr 30; 37(2): BSR20170251. Prepublished online 2017 Apr 10. Published online 2017 Apr 28. doi: 10.1042/BSR20170251
PMCID:
PMC5408658
AbstractArticlePDF–1.2M
5.
Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16
Yasaman Pakdaman, Siren Berland, Helene J. Bustad, Sigrid Erdal, Bryony A. Thompson, Paul A. James, Kjersti N. Power, Ståle Ellingsen, Martin Krooni, Line I. Berge, Adrienne Sexton, Laurence A. Bindoff, Per M. Knappskog, Stefan Johansson, Ingvild Aukrust
Int J Mol Sci. 2021 Jun; 22(11): 5870. Published online 2021 May 30. doi: 10.3390/ijms22115870
PMCID:
PMC8199271
AbstractArticlePDF–1.3M
6.
Most mutations that cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16) destabilize the protein quality-control E3 ligase CHIP
Adam J. Kanack, Oliver J. Newsom, Kenneth Matthew Scaglione
J Biol Chem. 2018 Feb 23; 293(8): 2735–2743. Published online 2018 Jan 9. doi: 10.1074/jbc.RA117.000477
PMCID:
PMC5827432
AbstractArticlePDF–1.9M
7.
Disrupted structure and aberrant function of CHIP mediates the loss of motor and cognitive function in preclinical models of SCAR16
Chang-he Shi, Carrie Rubel, Sarah E. Soss, Rebekah Sanchez-Hodge, Shuo Zhang, Sabrina C. Madrigal, Saranya Ravi, Holly McDonough, Richard C. Page, Walter J. Chazin, Cam Patterson, Cheng-yuan Mao, Monte S. Willis, Hai-Yang Luo, Yu-sheng Li, Donte A. Stevens, Mi-bo Tang, Pan Du, Yao-he Wang, Zheng-wei Hu, Yu-ming Xu, Jonathan C. Schisler
PLoS Genet. 2018 Sep; 14(9): e1007664. Published online 2018 Sep 17. doi: 10.1371/journal.pgen.1007664
PMCID:
PMC6160236
AbstractArticlePDF–17M
8.
Changes in protein function underlie the disease spectrum in patients with CHIP mutations
Sabrina C. Madrigal, Zipporah McNeil, Rebekah Sanchez-Hodge, Chang-he Shi, Cam Patterson, Kenneth Matthew Scaglione, Jonathan C. Schisler
J Biol Chem. 2019 Dec 13; 294(50): 19236–19245. Published online 2019 Oct 16. doi: 10.1074/jbc.RA119.011173
PMCID:
PMC6916485
AbstractArticlePDF–1.3M
9.
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
AbstractArticlePDF–294K
10.
SCA15 due to large ITPR1 deletions in a cohort of 333 Caucasian families with dominant ataxia
Dr Cecilia Marelli, Dr Joyce van de Leemput, Dr Janel O Johnson, Dr Francois Tison, Dr Christel Thauvin-Robinet, Dr Fabienne Picard, Dr Christine Tranchant, Dr Dena G Hernandez, Dr Bernard Huttin, Dr Jacques Boulliat, Dr Iban Sangla, Dr Christian Marescaux, Dr Serge Brique, Dr Hélène Dollfus, Dr Sampath Arepalli, Dr Isabelle Benatru, Dr Elisabeth Ollagnon, Dr Sylvie Forlani, Dr John Hardy, Dr Giovanni Stevanin, Dr Alexandra Dürr, Dr Andrew Singleton, Dr Alexis Brice
Arch Neurol. Author manuscript; available in PMC 2011 Jul 25.
Published in final edited form as: Arch Neurol. 2011 May; 68(5): 637–643. doi: 10.1001/archneurol.2011.81
PMCID:
PMC3142680
AbstractArticlePDF–1.0M
11.
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
AbstractArticlePDF–1.1M
12.
Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family
Li Wang, Ying Hao, Peng Yu, Zhenhua Cao, Jin Zhang, Xin Zhang, Yuanyuan Chen, Hao Zhang, Weihong Gu
Cerebellum. 2018; 17(3): 294–299. Published online 2017 Dec 1. doi: 10.1007/s12311-017-0896-z
PMCID:
PMC5966481
AbstractArticlePDF–2.7M
13.
Feedback inhibition of cAMP effector signaling by a chaperone-assisted ubiquitin system
Laura Rinaldi, Rossella Delle Donne, Bruno Catalanotti, Omar Torres-Quesada, Florian Enzler, Federica Moraca, Robert Nisticò, Francesco Chiuso, Sonia Piccinin, Verena Bachmann, Herbert H Lindner, Corrado Garbi, Antonella Scorziello, Nicola Antonino Russo, Matthis Synofzik, Ulrich Stelzl, Lucio Annunziato, Eduard Stefan, Antonio Feliciello
Nat Commun. 2019; 10: 2572. Published online 2019 Jun 12. doi: 10.1038/s41467-019-10037-y
Correction in:
Nat Commun. 2024; 15: 4565.
PMCID:
PMC6561907
AbstractArticlePDF–2.5M
14.
CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons
S. Schuster, E. Heuten, A. Velic, J. Admard, M. Synofzik, S. Ossowski, B. Macek, S. Hauser, L. Schöls
Dis Model Mech. 2020 Oct 1; 13(10): dmm045096. Published online 2020 Oct 12. doi: 10.1242/dmm.045096
PMCID:
PMC7578354
AbstractArticle
15.
A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype
David Mengel, Andreas Traschütz, Selina Reich, Alejandra Leyva-Gutiérrez, Friedemann Bender, Stefan Hauser, Tobias B. Haack, Matthis Synofzik
J Neurol. 2021; 268(10): 3845–3851. Published online 2021 Apr 3. doi: 10.1007/s00415-021-10524-7
PMCID:
PMC8463406
AbstractArticlePDF–1.0M
16.
Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient
Rie Saito, Yui Tada, Daisuke Oikawa, Yusuke Sato, Makiko Seto, Akira Satoh, Kodai Kume, Nozomi Ueki, Masahiro Nakashima, Shintaro Hayashi, Yasuko Toyoshima, Fuminori Tokunaga, Hideshi Kawakami, Akiyoshi Kakita
Acta Neuropathol Commun. 2022; 10: 177. Published online 2022 Dec 7. doi: 10.1186/s40478-022-01486-6
PMCID:
PMC9727856
AbstractArticlePDF–1.6M
17.
Two unrelated fetuses with ITPR1 missense variants and fetal hydrops
Sarah Harris, Manesha Putra, Kelly L. Gilmore, Neeta L. Vora
Prenat Diagn. Author manuscript; available in PMC 2024 Oct 1.
Published in final edited form as: Prenat Diagn. 2023 Oct; 43(11): 1463–1466. Published online 2023 Sep 13. doi: 10.1002/pd.6439
PMCID:
PMC10686210
AbstractArticlePDF–356K
18.
Extending the Phenotypic Spectrum Associated with STUB1 Mutations: A Case of Dystonia
Diana A. Olszewska, Justin A. Kinsella
Mov Disord Clin Pract. 2020 Apr; 7(3): 318–324. Published online 2020 Mar 9. doi: 10.1002/mdc3.12914
PMCID:
PMC7111583
AbstractArticlePDF–478K
19.
CHIP promotes Wnt signaling and regulates Arc stability by recruiting and polyubiquitinating LEF1 or Arc
Yuchun Liu, Yao Sun, Yonghui Huang, Kang Cheng, Yuming Xu, Qingnan Tian, Shoutao Zhang
Cell Death Discov. 2021; 7: 5. Published online 2021 Jan 11. doi: 10.1038/s41420-020-00394-9
PMCID:
PMC7801388
AbstractArticlePDF–1.6M
20.
SKELETAL MUSCLE MITOCHONDRIAL ALTERATIONS IN CARBOXYL TERMINUS OF HSC70 INTERACTING PROTEIN (CHIP) −/− MICE
Jonathan C. Schisler, Cam Patterson, Monte S. Willis
Afr J Cell Pathol. Author manuscript; available in PMC 2017 Jun 5.
Published in final edited form as: Afr J Cell Pathol. 2016 Apr; 6(4): 28–36.
PMCID:
PMC5459302
AbstractArticlePDF–630K

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