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Jahnavi Srinidhi

ORCID: 0009-0003-8416-2276
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Contact & Profiles
A5094223892
Research Areas
  • Amyotrophic Lateral Sclerosis Research
  • Cellular transport and secretion
  • Autophagy in Disease and Therapy

Heidelberg University
 2024

University Hospital Heidelberg
 2024

 A TBK1 variant causes autophagolysosomal and motoneuron pathology without neuroinflammation in mice
OPENALEX - Publications 
Dávid Brenner Kirsten Sieverding Jahnavi Srinidhi Susanne Zellner Christopher Secker and 26 more Rüstem Yilmaz Julia Dyckow Shady Amr Anna Yu. Ponomarenko Esra Tunaboylu Yasmin Douahem J. Schlag Lucía Rodríguez Martínez Georg Kislinger Cornelia Niemann Karsten Nalbach Wolfgang Ruf Jonathan Uhl Johanna Hollenbeck Lucas Schirmer Alberto Catanese Christian S. Lobsiger Karin M. Danzer Deniz Yilmazer‐Hanke Christian Münch Philipp Koch Axel Freischmidt Martina Fetting Christian Behrends Rosanna Parlato Jochen H. Weishaupt

Heterozygous mutations in the TBK1 gene can cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The majority of TBK1-ALS/FTD patients carry deleterious loss-of-expression mutations, it is still unclear which function leads to neurodegeneration. We investigated impact pathogenic missense variant p.E696K, does not abolish protein expression, but a selective loss binding autophagy adaptor substrate optineurin. Using organelle-specific proteomics, we found that knock-in...

10.1084/jem.20221190 article EN cc-by The Journal of Experimental Medicine 2024-02-17
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