Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis.
about
Progranulin, lysosomal regulation and neurodegenerative disease.Intracellular Proteolysis of Progranulin Generates Stable, Lysosomal Granulins that Are Haploinsufficient in Patients with Frontotemporal Dementia Caused by GRN Mutations.Regulation of cathepsin D activity by the FTLD protein progranulin.Selective depletion of microglial progranulin in mice is not sufficient to cause neuronal ceroid lipofuscinosis or neuroinflammation.Progranulin Gene Therapy Improves Lysosomal Dysfunction and Microglial Pathology Associated with Frontotemporal Dementia and Neuronal Ceroid Lipofuscinosis.Loss of TMEM106B Ameliorates Lysosomal and Frontotemporal Dementia-Related Phenotypes in Progranulin-Deficient Mice.Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients.Partial Tmem106b reduction does not correct abnormalities due to progranulin haploinsufficiency.The lysosomal function of progranulin, a guardian against neurodegenerationEarly lysosomal maturation deficits in microglia triggers enhanced lysosomal activity in other brain cells of progranulin knockout mice
P2860
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P2860
Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis.
description
2017 nî lūn-bûn
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2017 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2017 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2017年の論文
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2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
name
Individuals with progranulin h ...... euronal ceroid lipofuscinosis.
@ast
Individuals with progranulin h ...... euronal ceroid lipofuscinosis.
@en
type
label
Individuals with progranulin h ...... euronal ceroid lipofuscinosis.
@ast
Individuals with progranulin h ...... euronal ceroid lipofuscinosis.
@en
prefLabel
Individuals with progranulin h ...... euronal ceroid lipofuscinosis.
@ast
Individuals with progranulin h ...... euronal ceroid lipofuscinosis.
@en
P2093
P2860
P50
P1476
Individuals with progranulin h ...... neuronal ceroid lipofuscinosis
@en
P2093
Connor Ludwig
Eileen Bigio
Helene Boudin
John F Staropoli
Marek-Marsel Mesulam
Robert Chen
Sakura S Minami
William W Seeley
P2860
P356
10.1126/SCITRANSLMED.AAH5642
P407
P50
P577
2017-04-01T00:00:00Z