A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a …

…, K Sleegers, S Philtjens, G Kleinberger… - The Lancet …, 2012 - thelancet.com
Background Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD)
are extremes of a clinically, pathologically, and genetically overlapping disease spectrum…

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis

G Kleinberger, Y Yamanishi, M Suárez-Calvet… - Science translational …, 2014 - science.org
Genetic variants in the triggering receptor expressed on myeloid cells 2 (TREM2) have
been linked to Nasu-Hakola disease, Alzheimer’s disease (AD), Parkinson’s disease, …

TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration

H Wils, G Kleinberger, J Janssens… - Proceedings of the …, 2010 - National Acad Sciences
Neuronal cytoplasmic and intranuclear aggregates of RNA-binding protein TDP-43 are a
hallmark feature of neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS) …

sTREM 2 cerebrospinal fluid levels are a potential biomarker for microglia activity in early‐stage Alzheimer's disease and associate with neuronal injury markers

M Suárez‐Calvet, G Kleinberger… - EMBO molecular …, 2016 - embopress.org
TREM 2 is an innate immune receptor expressed on the surface of microglia. Loss‐of‐function
mutations of TREM 2 are associated with increased risk of Alzheimer's disease ( AD ). …

Loss of TREM2 function increases amyloid seeding but reduces plaque-associated ApoE

…, T Arzberger, M Brendel, G Kleinberger… - Nature …, 2019 - nature.com
Coding variants in the triggering receptor expressed on myeloid cells 2 (TREM2) are associated
with late-onset Alzheimer’s disease (AD). We demonstrate that amyloid plaque seeding …

hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

…, D Edbauer, J Janssens, G Kleinberger… - Acta …, 2013 - Springer
Genetic analysis revealed the hexanucleotide repeat expansion GGGGCC within the regulatory
region of the gene C9orf72 as the most common cause of familial amyotrophic lateral …

TREM 2 deficiency impairs chemotaxis and microglial responses to neuronal injury

F Mazaheri, N Snaidero, G Kleinberger, C Madore… - EMBO …, 2017 - embopress.org
Sequence variations in the triggering receptor expressed on myeloid cells 2 ( TREM 2) have
been linked to an increased risk for neurodegenerative disorders such as Alzheimer's …

Enhancing protective microglial activities with a dual function TREM 2 antibody to the stalk region

K Schlepckow, KM Monroe, G Kleinberger… - EMBO molecular …, 2020 - embopress.org
Triggering receptor expressed on myeloid cells 2 ( TREM 2) is essential for the transition of
homeostatic microglia to a disease‐associated microglial state. To enhance TREM 2 activity, …

Early changes in CSF sTREM2 in dominantly inherited Alzheimer's disease occur after amyloid deposition and neuronal injury

…, MÁ Araque Caballero, G Kleinberger… - Science translational …, 2016 - science.org
Emerging evidence supports a role for innate immunity and microglia in Alzheimer’s disease
(AD) pathophysiology. However, no marker related to microglia has been included in the …

Increased soluble TREM2 in cerebrospinal fluid is associated with reduced cognitive and clinical decline in Alzheimer's disease

…, MAA Caballero, G Kleinberger… - Science translational …, 2019 - science.org
Loss of function of TREM2, a key receptor selectively expressed by microglia in the brain,
contributes to the development of Alzheimer’s disease (AD). We therefore examined whether …