Varaico: Literature-Extracted Genetic Variants

Gene:DNM1L
Variant:p.G363D
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DNM1L

NM_012062.5:p.G363D

Associated Papers

Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutations.

Osawa MT et al.

Pediatric Research, 2025

40269254 (PubMed )
Supplement: 41390_2025_4045_MOESM16_ESM.pdf

DRP1 mutations associated with EMPF1 encephalopathy alter mitochondrial membrane potential and metabolic programs.

Robertson GL et al.

Journal of Cell Science, 2023

36763487 (PubMed )
Supplement: joces-136-260370_review_history.pdf

Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms.

Nolden KA et al.

Life Science Alliance, 2022

Structural basis of mitochondrial receptor binding and constriction by DRP1.

Kalia R et al.

Nature, 2018

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

Vanstone JR et al.

European Journal of Human Genetics : Ejhg, 2016

Cyclin-dependent kinases regulate splice-specific targeting of dynamin-related protein 1 to microtubules.

Strack S et al.

The Journal of Cell Biology, 2013

Structural insights into oligomerization and mitochondrial remodelling of dynamin 1-like protein.

Fröhlich C et al.

The Embo Journal, 2013

New insights into the function and regulation of mitochondrial fission.

Otera H et al.

Biochimica Et Biophysica Acta, 2013

Peroxisome division is impaired in a CHO cell mutant with an inactivating point-mutation in dynamin-like protein 1 gene.

Tanaka A et al.

Experimental Cell Research, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."