Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in <i>WDR45</i> associated with beta-propeller protein-associated neurodegeneration-Reference-Cited by-同舟云学术

Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in WDR45 associated with beta-propeller protein-associated neurodegeneration

Published:2023-05-04 Issue: Volume: Page:1-6
ISSN:0020-7454
Container-title:International Journal of Neuroscience
language:en
Short-container-title:International Journal of Neuroscience

Author:

Susgun Seda¹²³,Demirel Mert⁴,Yalcin Cakmakli Gul⁴,Salman Baris¹²,Oguz Kader K.⁵,Elibol Bulent⁶,Ugur Iseri Sibel Aylin¹,Yapici Zuhal⁷

Affiliation:

1. Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey

2. Graduate School of Health Sciences, Istanbul University, Istanbul, Turkey

3. Department of Medical Biology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey

4. Department of Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey

5. Department of Radiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey

6. Department of Neurology, Institute of Neurological Sciences and Psychiatry, Hacettepe University School of Medicine, Ankara, Turkey

7. Department of Neurology, Faculty of Medicine, Istanbul University, Istanbul, Turkey

Publisher

Informa UK Limited

Subject

General Medicine,General Neuroscience

Link

https://www.tandfonline.com/doi/pdf/10.1080/00207454.2023.2208279

Reference19 articles.

1. Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

2. Neurodegeneration with brain iron accumulation

3. Beta-propeller protein-associated neurodegeneration (BPAN) as a genetically simple model of multifaceted neuropathology resulting from defects in autophagy

4. The autophagy geneWdr45/Wipi4regulates learning and memory function and axonal homeostasis

5. WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death