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Select item 81992711.

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

Abstract Article PDF–1.3M

Select item 58274322.

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

Abstract Article PDF–1.9M

Select item 97278563.

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

Abstract Article PDF–1.6M

Select item 84634064.

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

Abstract Article PDF–1.0M

Select item 75783545.

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

Abstract Article

Select item 69164856.

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

Abstract Article PDF–1.3M

Select item 65619077.

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

Abstract Article PDF–2.5M

Select item 61602368.

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

Abstract Article PDF–17M

Select item 54086589.

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

Abstract Article PDF–1.2M

Select item 975690510.

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

Abstract Article PDF–907K

Select item 849788811.

Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish

Yasaman Pakdaman, Elsa Denker, Eirik Austad, William H. J. Norton, Hans O. Rolfsnes, Laurence A. Bindoff, Charalampos Tzoulis, Ingvild Aukrust, Per M. Knappskog, Stefan Johansson, Ståle Ellingsen

Front Mol Neurosci. 2021; 14: 723912. Published online 2021 Sep 24. doi: 10.3389/fnmol.2021.723912

PMCID:: PMC8497888

Abstract Article PDF–12M

Select item 844874312.

CHIP promotes the activation of NF-κB signaling through enhancing the K63-linked ubiquitination of TAK1

Yuchun Liu, Yao Sun, Shaoming Han, Yanan Guo, Qingnan Tian, Qiang Ma, Shoutao Zhang

Cell Death Discov. 2021; 7: 246. Published online 2021 Sep 17. doi: 10.1038/s41420-021-00637-3

PMCID:: PMC8448743

Abstract Article PDF–1.8M

Select item 780138813.

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

Abstract Article PDF–1.6M

Select item 711158314.

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

Abstract Article PDF–478K

Select item 545930215.

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

Abstract Article PDF–630K

Select item 944962816.

Autosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan

Izumi Aida, Tetsuo Ozawa, Kentaro Ohta, Hidehiko Fujinaka, Kiyoe Goto, Takashi Nakajima

Intern Med. 2022 Aug 15; 61(16): 2517–2521. Published online 2022 Feb 1. doi: 10.2169/internalmedicine.8608-21

PMCID:: PMC9449628

Abstract Article PDF–712K

Select item 882108417.

Genetic Risk Variants for Class Switching Recombination Defects in Ataxia-Telangiectasia Patients

Parisa Amirifar, Mahya Mehrmohamadi, Mohammad Reza Ranjouri, Seyed Mohammad Akrami, Nima Rezaei, Ali Saberi, Reza Yazdani, Hassan Abolhassani, Asghar Aghamohammadi

J Clin Immunol. 2022; 42(1): 72–84. Published online 2021 Oct 10. doi: 10.1007/s10875-021-01147-8

PMCID:: PMC8821084

Abstract Article PDF–1.1M

Select item 875845718.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity

Izumi Aida, Tetsuo Ozawa, Hidehiko Fujinaka, Kiyoe Goto, Kentaro Ohta, Takashi Nakajima

Intern Med. 2021 Dec 15; 60(24): 3963–3967. Published online 2021 Jun 12. doi: 10.2169/internalmedicine.7401-21

PMCID:: PMC8758457

Abstract Article PDF–543K

Select item 868631419.

C-terminus of Hsp70 Interacting Protein (CHIP) and Neurodegeneration: Lessons from the Bench and Bedside

Sivakami Mylvaganam, Rebecca Earnshaw, Gregory Heymann, Suneil K. Kalia, Lorraine V. Kalia

Curr Neuropharmacol. 2021 Jun 23; 19(7): 1038–1068. Published online 2021 Jun 23. doi: 10.2174/1570159X18666201116145507

PMCID:: PMC8686314

Abstract Article PDF–2.9M

Select item 839508620.

Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish

Valentina Naef, Maria Marchese, Asahi Ogi, Gianluca Fichi, Daniele Galatolo, Rosario Licitra, Stefano Doccini, Tiziano Verri, Francesco Argenton, Federica Morani, Filippo M. Santorelli

Int J Mol Sci. 2021 Aug; 22(16): 8401. Published online 2021 Aug 5. doi: 10.3390/ijms22168401

PMCID:: PMC8395086

Abstract Article PDF–1.9M

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