286387 RESULTS
COMMENT Amid development of disease-modifying treatments for Alzheimer's disease, including emerging microglia-modulating therapies, we need to develop reliable biomarkers for evaluating microglial dynamics in humans. CSF sTREM2 has been extensively studied
COMMENT As we enter the age of plausible microglia-targeted therapeutics, it is essential that relevant biomarkers, applicable across neurodegenerative diseases, be identified. Positron emission tomography (PET) studies with tracers targeting the TSPO protein hav
COMMENT This is a fantastic article highlighting the impressive work being done by the combined research and clinical team in Finland. At our own NPH clinic at Columbia University/New York Presbyterian Hospital we are doing similar/complementary studies to what i
SERIES The endocytic receptor SORL1 has come to fruition both literally and figuratively. An interactive diagram of the 2,214 amino acid behemoth—filled with findings about hundreds of rare variants—is live for viewing on the Alzforum Mutations database. A handf
PAPER Stuart S, Godfrey A, Mancini M
COMMENT This is a lovely article that complements so much of the work on tau. G3BP is the classic initiator for stress granules and is commonly studied in this context. It works great in studies of dividing cells. Indeed, G3BP is known to bind TDP-43, and associ
PAPER Emmerson JT, Do Carmo S, Liu Y, Shalhoub A, Liu A, Bonomo Q, Malcolm JC, Breuillaud L, Cuello AC
PAPER Saatci Yurtsever S, Öztop Çakmak Ö, Yapıcı Eser H, Ertan S, Demir-Lira ÖE, Göksun T
PAPER Colis-Torres A, Neri-Castro E, Strickland JL, Olvera-Rodríguez A, Borja M, Calvete J, Jones J, Parkinson CL, Bañuelos J, López de León J, Alagón A
PAPER Arcolin I, Godi M, Corna S
SERIES In the Finnish city of Kuopio, neurosurgeons collaborate with neurophysiologists and molecular and cellular biologists to make frontal cortex, dura, intraventricular CSF, skin, fat, and other tissue from hydrocephalus patients available for research purpo
MUTATIONS SORL1 121429493 GRCh37/hg19 C T Exon 20 Coding Impairs maturation (glycosylation) and disrupts trafficking of SORL1. Amyloid plaques, neurofibrillary tangles, and TDP-43 inclusions. R953C The R953C variant was identified in a family seen at the University
MUTATIONS SORL1 121429346 GRCh37/hg19 rs148966249 C T Exon 20 Coding Unknown; predicted deleterious in silico. Amyloid plaques, neurofibrillary tangles, limited CAA. R904W Alzheimer's Disease The SORL1 R904W variant was identified in a Colombian family with ea
PAPER Liu S, Yuan H, Liu J, Lin H, Yang C, Cai X
MUTATIONS SORL1 121424791 GRCh37/hg19 rs766534267 G A Exon 17 Coding Introduces a premature stop codon. W804Ter Alzheimer's Disease This variant was identified in two families enrolled in the French National Reference Center for Young Alzheimer Patients (Centr
No filters selected
