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

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

(2011) Safa Al-Sarraj et al.   ACTA NEUROPATHOLOGICA

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

(2011) Melissa E. Murray et al.   ACTA NEUROPATHOLOGICA

Core features of frontotemporal dementia recapitulated in progranulin knockout mice

(2011) N. Ghoshal et al.   NEUROBIOLOGY OF DISEASE

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

(2010) Hazel Urwin et al.   ACTA NEUROPATHOLOGICA

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

Behavioral deficits and progressive neuropathology in progranulin-deficient mice: a mouse model of frontotemporal dementia

(2010) Fangfang Yin et al.   FASEB JOURNAL

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

Genetic contribution of FUS to frontotemporal lobar degeneration

(2010) T. Van Langenhove et al.   NEUROLOGY

Sortilin-Mediated Endocytosis Determines Levels of the Frontotemporal Dementia Protein, Progranulin

(2010) Fenghua Hu et al.   NEURON

Retrograde axonal transport: pathways to cell death?

(2010) Eran Perlson et al.   TRENDS IN NEUROSCIENCES

Partial Loss of Ataxin-1 Function Contributes to Transcriptional Dysregulation in Spinocerebellar Ataxia Type 1 Pathogenesis

(2010) Juan Crespo-Barreto et al.   PLoS Genetics

Absence of FUS-immunoreactive pathology in frontotemporal dementia linked to chromosome 3 (FTD-3) caused by mutation in the CHMP2B gene

(2009) Ida Elisabeth Holm et al.   ACTA NEUROPATHOLOGICA

Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update

(2009) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

TARDBPmutations in motoneuron disease with frontotemporal lobar degeneration

(2009) Lina Benajiba et al.   ANNALS OF NEUROLOGY

Autophagy defects contribute to neurodegeneration induced by dysfunctional ESCRT-III

(2009) Jin-A Lee et al.   Autophagy

The role of CHMP2B in frontotemporal dementia

(2009) Hazel Urwin et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Mutation withinTARDBPleads to Frontotemporal Dementia without motor neuron disease

(2009) B. Borroni et al.   HUMAN MUTATION

How do ESCRT proteins control autophagy?

(2009) T. E. Rusten et al.   JOURNAL OF CELL SCIENCE

Exaggerated inflammation, impaired host defense, and neuropathology in progranulin-deficient mice

(2009) Fangfang Yin et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Neuropathologic Features of Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions Visualized With Ubiquitin-Binding Protein p62 Immunohistochemistry

(2009) Maria Pikkarainen et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea

(2009) Gabor G. Kovacs et al.   MOVEMENT DISORDERS

GISP increases neurotransmitter receptor stability by down-regulating ESCRT-mediated lysosomal degradation

(2009) Sriharsha Kantamneni et al.   NEUROSCIENCE LETTERS

Genetic screen identifies serpin5 as a regulator of the toll pathway and CHMP2B toxicity associated with frontotemporal dementia

(2009) S. T. Ahmad et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Motor Neuron Disease Occurring in a Mutant Dynactin Mouse Model Is Characterized by Defects in Vesicular Trafficking

(2008) F. M. Laird et al.   JOURNAL OF NEUROSCIENCE

The coming of age of axonal neurotrophin signaling endosomes

(2008) Chengbiao Wu et al.   Journal of Proteomics

Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1

(2008) Janghoo Lim et al.   NATURE