Elevated TMEM106B levels exaggerate lipofuscin accumulation and lysosomal dysfunction in aged mice with progranulin deficiency

The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway

(2016) Sorana Ciura et al.   Autophagy

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death

(2016) Chantal Sellier et al.   EMBO JOURNAL

C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling

(2016) Joseph Amick et al.   MOLECULAR BIOLOGY OF THE CELL

C9orf72 is required for proper macrophage and microglial function in mice

(2016) J. G. ORourke et al.   SCIENCE

Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling

(2016) Janet Ugolino et al.   PLoS Genetics

A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy

(2016) M. Yang et al.   Science Advances

The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway

(2016) Peter M. Sullivan et al.   Acta Neuropathologica Communications

Prosaposin facilitates sortilin-independent lysosomal trafficking of progranulin

(2015) Xiaolai Zhou et al.   JOURNAL OF CELL BIOLOGY

TMEM106B, a frontotemporal lobar dementia (FTLD) modifier, associates with FTD-3-linked CHMP2B, a complex of ESCRT-III

(2015) Mi-Hee Jun et al.   Molecular Brain

TMEM106B: a strong FTLD disease modifier

(2014) Yuetiva Deming et al.   ACTA NEUROPATHOLOGICA

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

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

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

Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and  C9orf72 repeat expansions

(2014) Serena Lattante et al.   NEUROBIOLOGY OF AGING

Possible involvement of lysosomal dysfunction in pathological changes of the brain in aged progranulin-deficient mice

(2014) Yoshinori Tanaka et al.   Acta Neuropathologica Communications

Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum

(2013) Susan L. Cotman et al.   Current Neurology and Neuroscience Reports

The FTLD risk factor TMEM106B and MAP6 control dendritic trafficking of lysosomes

(2013) Benjamin M. Schwenk et al.   EMBO JOURNAL

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

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

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

TMEM106B risk variant is implicated in the pathologic presentation of Alzheimer disease

(2012) N. J. Rutherford et al.   NEUROLOGY

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

A hexanucleotide repeat expansion in C9ORF72 links amyotrophic lateral sclerosis and frontotemporal dementia

(2011) Heather Wood   Nature Reviews Neurology

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

Transcriptional gene network inference from a massive dataset elucidates transcriptome organization and gene function

(2011) Vincenzo Belcastro et al.   NUCLEIC ACIDS RESEARCH

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

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

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

(2010) Fenghua Hu et al.   NEURON