КФУ. Карточка публикации. ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia

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ATPASE-DEFICIENT MITOCHONDRIAL INNER MEMBRANE PROTEIN ATAD3A DISTURBS MITOCHONDRIAL DYNAMICS IN DOMINANT HEREDITARY SPASTIC PARAPLEGIA

Форма представления

Статьи в зарубежных журналах и сборниках

Год публикации

2017

Язык

английский

Авторы, сотрудники КФУ

Хайруллин Рафиль Фидаилевич, автор

Библиографическое описание на языке оригинала

Cooper, H. M., Y. Yang, E. Ylikallio, R. Khairullin, R. Woldegebriel, K. L. Lin, L. Euro, E. Palin, A. Wolf, R. Trokovic, P. Isohanni, S. Kaakkola, M. Auranen, T. Lonnqvist, S. Wanrooij & H. Tyynismaa. ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia (2017) Human Molecular Genetics, January 2017

Аннотация

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, both with disease onset in childhood. HSP is a clinically and genetically heterogeneous disorder of the upper motor neurons. Symptoms beginning in early childhood may resemble spastic cerebral palsy. The function of ATAD3A, a mitochondrial inner membrane AAA ATPase, is yet undefined. AAA ATPases form hexameric rings, which are catalytically dependent on the co-operation of the subunits. The dominant-negative patient mutation affects the Walker A motif, which is responsible for ATP binding in the AAA m

Ключевые слова

hypertrophic cardiomyopathy phenotype mutation mitochondria fibroblast heterogeneity adenosine triphosphatases autophagy child heterozygote lysosomes membrane proteins tissue membrane mothers muscle spasticity neurons optic atrophy spastic paraplegia, hereditary starvation walkers muscle hypotonia stem cells, pluripotent spastic cerebral palsy developmental delay upper motor neuron protein overexpression axonal neuropathy dominant-negative mutation frap1 protein, human de novo mutation cerebral palsy, athetoid whole exome sequencing verification

Название журнала

Human Molecular Genetics

URL

https://academic.oup.com/hmg/article/26/8/1432/2965273/ATPase-deficient-mitochondrial-inner-membrane

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https://repository.kpfu.ru/?p_id=151693

Полная запись метаданных

Поле DC	Значение	Язык
dc.contributor.author	Хайруллин Рафиль Фидаилевич	ru_RU
dc.date.accessioned	2017-01-01T00:00:00Z	ru_RU
dc.date.available	2017-01-01T00:00:00Z	ru_RU
dc.date.issued	2017	ru_RU
dc.identifier.citation	Cooper, H. M., Y. Yang, E. Ylikallio, R. Khairullin, R. Woldegebriel, K. L. Lin, L. Euro, E. Palin, A. Wolf, R. Trokovic, P. Isohanni, S. Kaakkola, M. Auranen, T. Lonnqvist, S. Wanrooij & H. Tyynismaa. ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia (2017) Human Molecular Genetics, January 2017	ru_RU
dc.identifier.uri	https://repository.kpfu.ru/?p_id=151693	ru_RU
dc.description.abstract	Human Molecular Genetics	ru_RU
dc.description.abstract	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, both with disease onset in childhood. HSP is a clinically and genetically heterogeneous disorder of the upper motor neurons. Symptoms beginning in early childhood may resemble spastic cerebral palsy. The function of ATAD3A, a mitochondrial inner membrane AAA ATPase, is yet undefined. AAA ATPases form hexameric rings, which are catalytically dependent on the co-operation of the subunits. The dominant-negative patient mutation affects the Walker A motif, which is responsible for ATP binding in the AAA m	ru_RU
dc.language.iso	ru	ru_RU
dc.subject	hypertrophic cardiomyopathy phenotype mutation mitochondria fibroblast heterogeneity adenosine triphosphatases autophagy child heterozygote lysosomes membrane proteins tissue membrane mothers muscle spasticity neurons optic atrophy spastic paraplegia	ru_RU
dc.subject	hereditary starvation walkers muscle hypotonia stem cells	ru_RU
dc.subject	pluripotent spastic cerebral palsy developmental delay upper motor neuron protein overexpression axonal neuropathy dominant-negative mutation frap1 protein	ru_RU
dc.subject	human de novo mutation cerebral palsy	ru_RU
dc.subject	athetoid whole exome sequencing verification	ru_RU
dc.title	ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia	ru_RU
dc.type	Статьи в зарубежных журналах и сборниках	ru_RU