Publications

Outcome of epilepsy in patients with mitochondrial disorders: Phenotype genotype and magnetic resonance imaging correlations

Clin Neurol Neurosurg. 164:182-189

Author Response: Penetrance of the LHON Mutation m.11778G>A May Depend on Factors Other Than Haplotype or Heteroplasmy Rate

Invest Ophthalmol Vis Sci. 59:382

Reconstructing the demographic history of the Himalayan and adjoining populations

Hum Genet. 137:129-139.

Mitochondria in health and disease

Mitochondrion 43: 25-29.

The rod-shaped ATG2A-WIPI4 complex tethers membranes in vitro.

Contact (https://doi.org/10.11772515256418819936)

Identification of a splice variant of optineurin which is defective in autophagy and phosphorylation.

BBA-Mol. Cell Res.1865, 1526-1538.

Autophagy receptor optineurin promotes autophagosome formation by potentiating LC3-II production and phagophore maturation.

Commun Integr Biol. 11, 1-4.

Altered functions and interactions of glaucoma-associated mutants of optineurin.

Frontiers in Immunology 9, 1287.

Optineurin promotes autophagosome formation by recruiting the autophagy-related Atg12-5-16L1 complex to phagophores containing the Wipi2 protein.

J Biol Chem. 293, 132-147.

The influences of genes, the environment, and social factors on the evolution of skin color diversity in India

Am J Hum Biol. 30:e23170; 1-15