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Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
It is demonstrated that FTDU-17 is caused by mutations in the gene coding for progranulin (PGRN), a growth factor involved in multiple physiological and pathological processes including tumorigenesis, and evidence that P GRN haploinsufficiency leads to neurodegeneration because of reduced PGRN-mediated neuronal survival is provided.
TREM2 variants in Alzheimer's disease.
- R. Guerreiro, Aleksandra M. Wojtas, J. Hardy
- Biology, PsychologyThe New England journal of medicine
- 10 January 2013
Heterozygous rare variants in TREM2 are associated with a significant increase in the risk of Alzheimer's disease.
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
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.
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
Dysregulated polymerization caused by a potent mutant steric zipper motif in a PrLD can initiate degenerative disease and related proteins with PrLDs should be considered candidates for initiating and perhaps propagating proteinopathies of muscle, brain, motor neuron and bone.
TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia
Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS
A new subtype of frontotemporal lobar degeneration with FUS pathology.
- M. Neumann, R. Rademakers, S. Roeber, M. Baker, H. Kretzschmar, I. Mackenzie
- Biology, MedicineBrain : a journal of neurology
- 1 November 2009
Findings suggest that FUS is the pathological protein in a significant subgroup of sporadic FTD and reinforce the concept that FTd and amyotrophic lateral sclerosis are closely related conditions.
TDP‐43 A315T mutation in familial motor neuron disease
The discovery of a missense mutation in TDP‐43 in a family with dominantly inherited motor neuron disease provides evidence of a direct link between altered T DP‐43 function and neurodegeneration.
Apolipoprotein E Is a Ligand for Triggering Receptor Expressed on Myeloid Cells 2 (TREM2)*
It is demonstrated that apoE-TREM2 interaction in microglia plays critical roles in modulating phagocytosis of apo E-bound apoptotic neurons and establish a critical link between two proteins whose genes are strongly linked to the risk for AD.