KFU. Card publication. New Approaches to Tay-Sachs Disease Therapy

KAZAN
FEDERAL UNIVERSITY

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NEW APPROACHES TO TAY-SACHS DISEASE THERAPY

Form of presentation

Articles in international journals and collections

Year of publication

2018

Язык

английский

Authors, employees of KFU

Shaymardanova Alisa Almazovna, author

Bibliographic description in the original language

Solovyeva V.V. New Approaches to Tay-Sachs Disease Therapy / V.V. Solovyeva, A.A. Shaimardanova, D.S. Chulpanova, K.V. Kitaeva, L. Chakrabarti, A.A. Rizvanov // Front. Physiol. – 2018.

Annotation

Tay-Sachs disease belongs to the group of autosomal-recessive lysosomal storage metabolic disorders. This disease is caused by β-hexosaminidase A (HexA) enzyme deficiency due to various mutations in α-subunit gene of this enzyme, resulting in GM2 ganglioside accumulation predominantly in lysosomes of nerve cells. Tay-Sachs disease is characterized by acute neurodegeneration preceded by activated microglia expansion, macrophage and astrocyte activation along with inflammatory mediator production. In most cases, the disease manifests itself during infancy, the “infantile form,” which characterizes the most severe disorders of the nervous system. The juvenile form, the symptoms of which appear in adolescence, and the most rare form with late onset of symptoms in adulthood are also described. The typical features of Tay-Sachs disease are muscle weakness, ataxia, speech, and mental disorders. Clinical symptom severity depends on residual HexA enzymatic activity associated with some mutation

Keywords

Tay-Sachs disease,GM2 ganglioside, β-hexosaminidase

The name of the journal

FRONTIERS IN PHYSIOLOGY

URL

https://doi.org/10.3389/fphys.2018.01663

Please use this ID to quote from or refer to the card

https://repository.kpfu.ru/eng/?p_id=189373&p_lang=2

Full metadata record

Field DC	Value	Language
dc.contributor.author	Shaymardanova Alisa Almazovna	ru_RU
dc.date.accessioned	2018-01-01T00:00:00Z	ru_RU
dc.date.available	2018-01-01T00:00:00Z	ru_RU
dc.date.issued	2018	ru_RU
dc.identifier.citation	Solovyeva V.V. New Approaches to Tay-Sachs Disease Therapy / V.V. Solovyeva, A.A. Shaimardanova, D.S. Chulpanova, K.V. Kitaeva, L. Chakrabarti, A.A. Rizvanov // Front. Physiol. – 2018.	ru_RU
dc.identifier.uri	https://repository.kpfu.ru/eng/?p_id=189373&p_lang=2	ru_RU
dc.description.abstract	FRONTIERS IN PHYSIOLOGY	ru_RU
dc.description.abstract	Tay-Sachs disease belongs to the group of autosomal-recessive lysosomal storage metabolic disorders. This disease is caused by β-hexosaminidase A (HexA) enzyme deficiency due to various mutations in α-subunit gene of this enzyme, resulting in GM2 ganglioside accumulation predominantly in lysosomes of nerve cells. Tay-Sachs disease is characterized by acute neurodegeneration preceded by activated microglia expansion, macrophage and astrocyte activation along with inflammatory mediator production. In most cases, the disease manifests itself during infancy, the “infantile form,” which characterizes the most severe disorders of the nervous system. The juvenile form, the symptoms of which appear in adolescence, and the most rare form with late onset of symptoms in adulthood are also described. The typical features of Tay-Sachs disease are muscle weakness, ataxia, speech, and mental disorders. Clinical symptom severity depends on residual HexA enzymatic activity associated with some mutation	ru_RU
dc.language.iso	ru	ru_RU
dc.subject	Tay-Sachs disease	ru_RU
dc.subject	GM2 ganglioside	ru_RU
dc.subject	β-hexosaminidase	ru_RU
dc.title	New Approaches to Tay-Sachs Disease Therapy	ru_RU
dc.type	Articles in international journals and collections	ru_RU