TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia

(2013) Alexandra M. Nicholson et al.   JOURNAL OF NEUROCHEMISTRY

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

(2013) Marka van Blitterswijk et al.   LANCET NEUROLOGY

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

(2013) M. van Blitterswijk et al.   NEUROLOGY

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

(2013) Peter E.A. Ash et al.   NEURON

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

The functional analysis of the CHMP2B missense mutation associated with neurodegenerative diseases in the endo-lysosomal pathway

(2012) Jeong-Ho Han et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia

(2012) Marka van Blitterswijk et al.   CURRENT OPINION IN NEUROLOGY

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

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

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

A harmonized classification system for FTLD-TDP pathology

(2011) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Association of TMEM106B Gene Polymorphism With Age at Onset in Granulin Mutation Carriers and Plasma Granulin Protein Levels

(2011) Carlos Cruchaga et al.   ARCHIVES OF NEUROLOGY

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

(2011) Julie van der Zee et al.   BRAIN

The p97 ATPase associates with EEA1 to regulate the size of early endosomes

(2011) Harish N Ramanathan et al.   CELL RESEARCH

Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations

(2011) Danilo Ritz et al.   NATURE CELL BIOLOGY

Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis

(2011) Sara Rollinson et al.   NEUROBIOLOGY OF AGING

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

Risk genotypes at TMEM106B are associated with cognitive impairment in amyotrophic lateral sclerosis

(2010) Ryan Vass et al.   ACTA NEUROPATHOLOGICA

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

(2010) Hazel Urwin et al.   HUMAN MOLECULAR GENETICS

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

Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations

(2008) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA