Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
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Summary
It is demonstrated that in multiple FTD families with significant evidence for linkage to the same region on chromosome 17q21, FTD is caused by mutations in progranulin (PGRN) that are likely to create null alleles and identified mutations in PGRN as a cause of neurodegenerative disease.
- Type
- article
- Published
- 2006-08-24
- Cited by
- 2,011
- References
- 35
- OpenAlex
- https://openalex.org/W2027460468
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:4312394
Keywords
Frontotemporal dementia, Tau protein, Dementia, Biology, C9orf72
References
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- Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis
- PC cell-derived growth factor (PCDGF/GP88, progranulin) stimulates migration, invasiveness and VEGF expression in breast cancer cells.
Cited by
- Early frontotemporal dementia targets neurons unique to apes and humans
- Clinicopathologic features of frontotemporal dementia with Progranulin sequence variation
- Progranulin null mutations in both sporadic and familial frontotemporal dementia
- Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration
- Frontotemporale Lobärdegenerationen
- The enigmatic roles of microglial versus neuronal progranulin in neurological disease
- The ubiquitin proteasome system in neurodegenerative diseases: culprit, accomplice or victim?
- Phenotypic Variability of Familial and Sporadic Progranulin p.Gln257Profs*27 Mutation
- Progranulin, a Major Secreted Protein of Mouse Adipose‐Derived Stem Cells, Inhibits Light‐Induced Retinal Degeneration
- Early Neuropsychological Characteristics of Progranulin Mutation Carriers
- The molecular basis for development of proinflammatory autoantibodies to progranulin.
- Trehalose upregulates progranulin expression in human and mouse models of GRN haploinsufficiency: a novel therapeutic lead to treat frontotemporal dementia
- GRN deletion in familial frontotemporal dementia showing association with clinical variability in 3 familial cases.
- Involvement of progranulin in modulating neuroinflammatory responses but not neurogenesis in the hippocampus of aged mice
- Atypical parkinsonian syndromes: a general neurologist’s perspective
- Molecular Genetics of Frontotemporal Dementia Elucidated by Drosophila Models—Defects in Endosomal–Lysosomal Pathway
- Proximal recolonization by self-renewing microglia re-establishes microglial homeostasis in the adult mouse brain
- Apport de l'analyse multidisciplinaire dans la compréhension des mécanismes physiopathologiques des démences
- A morphometric study of the spatial patterns of TDP-43 immunoreactive neuronal inclusions in frontotemporal lobar degeneration (FTLD) with progranulin (GRN) mutation
- Contemporary approaches to Alzheimer's disease and frontotemporal dementia.
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