Low Frequency of p. <scp>S510G</scp> in <scp>PIAS1</scp> Challenges its Relevance for Modifying Repeat Expansion Disorders-Reference-Cited by-同舟云学术

Low Frequency of p. S510G in PIAS1 Challenges its Relevance for Modifying Repeat Expansion Disorders

Published:2022-08-19 Issue:10 Volume:37 Page:2168-2169
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Movement Disorders

Author:

Algodon Shela Marie¹,Fischer Tanja¹,Rosales Raymond²,Jamora Roland Dominic³^ORCID,Diesta Cid Czarina⁴,Saranza Gerard⁵^ORCID,Brüggemann Norbert¹⁶^ORCID,Klein Christine¹^ORCID,Westenberger Ana¹^ORCID

Affiliation:

1. Institute of Neurogenetics, University of Lübeck Lübeck Germany

2. The Research Center for Health Sciences ‐ Faculty of Medicine & Surgery and the Hospital Neuroscience Institute University of Santo Tomas Manila Philippines

3. Department of Neurosciences College of Medicine–Philippine General Hospital, University of the Philippines Manila Manila Philippines

4. Department of Neurosciences, Movement Disorders Clinic Makati Medical Center Makati Philippines

5. Section of Neurology, Department of Internal Medicine Chong Hua Hospital Cebu Philippines

6. Department of Neurology University Hospital Schleswig Holstein Lübeck Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.29191

Reference7 articles.

1. A PIAS1 Protective Variant S510G Delays polyQ Disease Onset by Modifying Protein Homeostasis

2. PIAS1 Regulates Mutant Huntingtin Accumulation and Huntington’s Disease-Associated Phenotypes In Vivo

3. PIAS1 modulates striatal transcription, DNA damage repair, and SUMOylation with relevance to Huntington’s disease

4. CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset

5. FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders

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