Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology

Regulation of Postsynaptic Function by the Dementia-Related ESCRT-III Subunit CHMP2B

(2015) R. Chassefeyre et al.   JOURNAL OF NEUROSCIENCE

Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis

(2014) Julia K. Götzl et al.   ACTA NEUROPATHOLOGICA

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

(2014) Michael D. Gallagher et al.   ACTA NEUROPATHOLOGICA

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

(2014) Marka van Blitterswijk et al.   ACTA NEUROPATHOLOGICA

Pathogenesis/genetics of frontotemporal dementia and how it relates to ALS

(2014) Janis Bennion Callister et al.   EXPERIMENTAL NEUROLOGY

Lysosome size, motility and stress response regulated by fronto-temporal dementia modifier TMEM106B

(2014) Massimiliano Stagi et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Alterations in microRNA-124 and AMPA receptors contribute to social behavioral deficits in frontotemporal dementia

(2014) Eduardo Gascon et al.   NATURE MEDICINE

Syntaxin 13, a Genetic Modifier of Mutant CHMP2B in Frontotemporal Dementia, Is Required for Autophagosome Maturation

(2013) Yubing Lu et al.   MOLECULAR CELL

Molecular Mechanisms of the Membrane Sculpting ESCRT Pathway

(2013) W. M. Henne et al.   Cold Spring Harbor Perspectives in Biology

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

(2012) Katherine R. Smith et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice

(2012) Shabnam Ghazi-Noori et al.   BRAIN

The frontotemporal lobar degeneration risk factor, TMEM106B, regulates lysosomal morphology and function

(2012) Owen A. Brady et al.   HUMAN MOLECULAR GENETICS

Membrane Orientation and Subcellular Localization of Transmembrane Protein 106B (TMEM106B), a Major Risk Factor for Frontotemporal Lobar Degeneration

(2012) Christina M. Lang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference

(2012) Troels Tolstrup Nielsen et al.   JOURNAL OF GENE MEDICINE

TMEM106B, the Risk Gene for Frontotemporal Dementia, Is Regulated by the microRNA-132/212 Cluster and Affects Progranulin Pathways

(2012) A. S. Chen-Plotkin et al.   JOURNAL OF NEUROSCIENCE

TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort

(2011) Julie van der Zee et al.   BRAIN

Frontotemporal Dementia Caused by CHMP2B Mutations

(2011) A. M. Isaacs et al.   Current Alzheimer Research

Phenotypic signatures of genetic frontotemporal dementia

(2011) Jonathan D. Rohrer et al.   CURRENT OPINION IN NEUROLOGY

Charged Multivesicular Body Protein 2B (CHMP2B) of the Endosomal Sorting Complex Required for Transport-III (ESCRT-III) Polymerizes into Helical Structures Deforming the Plasma Membrane

(2011) Gilles Bodon et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Accelerated Lipofuscinosis and Ubiquitination in Granulin Knockout Mice Suggest a Role for Progranulin in Successful Aging

(2010) Zeshan Ahmed et al.   AMERICAN JOURNAL OF PATHOLOGY

The role of ESCRT proteins in fusion events involving lysosomes, endosomes and autophagosomes: Figure 1

(2010) Daniel Metcalf et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

(2010) Hazel Urwin et al.   HUMAN MOLECULAR GENETICS

CHMP2B mutants linked to frontotemporal dementia impair maturation of dendritic spines

(2010) A. Belly et al.   JOURNAL OF CELL SCIENCE

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

(2010) Vivianna M Van Deerlin et al.   NATURE GENETICS

TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers

(2010) N. Finch et al.   NEUROLOGY

Lysosomal Storage Disease: Revealing Lysosomal Function and Physiology

(2010) Emma J. Parkinson-Lawrence et al.   PHYSIOLOGY

Silencing by small RNAs is linked to endosomal trafficking

(2009) Young Sik Lee et al.   NATURE CELL BIOLOGY

Multivesicular bodies associate with components of miRNA effector complexes and modulate miRNA activity

(2009) Derrick J. Gibbings et al.   NATURE CELL BIOLOGY

Frontotemporal dementia linked to chromosome 3 (FTD-3) - current concepts and the detection of a previously unknown branch of the Danish FTD-3 family

(2008) S. G. Lindquist et al.   EUROPEAN JOURNAL OF NEUROLOGY

A novel deletion in progranulin gene is associated with FTDP-17 and CBS

(2006) Luisa Benussi et al.   NEUROBIOLOGY OF AGING