ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia

@inproceedings{Cooper2017ATPasedeficientMI,
  title={ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia},
  author={Helen M. Cooper and Yang Yang and Emil Ylikallio and Rafil Khairullin and Rosa Woldegebriel and Kai-Lan Lin and Liliya Euro and Eino J H Palin and Alexander Wolf and Ras Trokovic and Pirjo Isohanni and Seppo Kaakkola and Mari P Auranen and T L{\"o}nnqvist and Sjoerd Wanrooij and Henna Tyynismaa},
  booktitle={Human molecular genetics},
  year={2017}
}
De novo mutations in ATAD3A (ATPase family AAA-domain containing protein 3A) were recently found to cause a neurological syndrome with developmental delay, hypotonia, spasticity, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. Using whole-exome sequencing, we identified a dominantly inherited heterozygous variant c.1064G > A (p.G355D) in ATAD3A in a mother presenting with hereditary spastic paraplegia (HSP) and axonal neuropathy and her son with dyskinetic cerebral palsy… CONTINUE READING
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