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Filtering by: Creator Valdez, Clarissa Subject Neurosciences

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Lysosomal Dysfunction due to PGRN Mutations in Frontotemporal Dementia

Description:

Frontotemporal dementia (FTD) encompasses a group of neurodegenerative disorders characterized by cognitive and behavioral impairments. Heterozygous mutations in progranulin (PGRN) cause familial FTD and result in decreased PGRN expression, while homozygous mutations result in complete loss of PGRN expression and lead to the neurodegenerative lysosomal storage disorder neuronal ceroid lipofuscinosis...

Keyword:

Progranulin, Frontotemporal Dementia, Lysosome, and Cathepsin D

Subject:

Neurosciences

Creator:

Valdez, Clarissa

Owner:

Scholarly Digital Publishing

Language:

en

Date Uploaded:

02/12/2020

Date Created:

2017-01-01

Resource Type:

Dissertation

Alternate Identifier:

http://dissertations.umi.com/northwestern:14449 and etdadmin_upload_626172