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Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar...

Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_afd44deb62a8416980a2d0acb1a3fb39

Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar degeneration associated with granulin mutation

About this item

Full title

Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar degeneration associated with granulin mutation

Publisher

London: Nature Publishing Group UK

Journal title

Scientific reports, 2017-05, Vol.7 (1), p.1513-11, Article 1513

Language

English

Formats

Publication information

Publisher

London: Nature Publishing Group UK

More information

Scope and Contents

Contents

In 2006, mutations in the granulin gene were identified in patients with familial Frontotemporal Lobar Degeneration. Granulin transcript haploinsufficiency has been proposed as a disease mechanism that leads to the loss of functional progranulin protein. Granulin mutations were initially found in tau-negative patients, though recent findings indica...

Alternative Titles

Full title

Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar degeneration associated with granulin mutation

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_afd44deb62a8416980a2d0acb1a3fb39

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_afd44deb62a8416980a2d0acb1a3fb39

Other Identifiers

ISSN

2045-2322

E-ISSN

2045-2322

DOI

10.1038/s41598-017-01587-6

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