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https://www.readbyqxmd.com/read/30013069/tmem106b-drives-lung-cancer-metastasis-by-inducing-tfeb-dependent-lysosome-synthesis-and-secretion-of-cathepsins
#1
Samrat T Kundu, Caitlin L Grzeskowiak, Jared J Fradette, Laura A Gibson, Leticia B Rodriguez, Chad J Creighton, Kenneth L Scott, Don L Gibbons
Metastatic lung cancer is the leading cause of cancer-associated mortality worldwide, therefore necessitating novel approaches to identify specific genetic drivers for lung cancer progression and metastasis. We recently performed an in vivo gain-of-function genetic screen to identify driver genes of lung cancer metastasis. In the study reported here, we identify TMEM106B as a primary robust driver of lung cancer metastasis. Ectopic expression of TMEM106B could significantly promote the synthesis of enlarged vesicular lysosomes that are laden with elevated levels of active cathepsins...
July 16, 2018: Nature Communications
https://www.readbyqxmd.com/read/29977663/genetic-modifiers-in-neurodegeneration
#2
Nimansha Jain, Alice S Chen-Plotkin
PURPOSE OF REVIEW: To review the evidence for genetic modifier effects in the neurodegenerative diseases Huntington's Disease (HD), Frontotemporal Lobar Degeneration (FTLD), Alzheimer's Disease (AD), and Parkinson's Disease (PD). RECENT FINDINGS: Increasingly, we understand human disease genetics less through the lens of single-locus/single-trait effects, and more through that of polygenic contributions to disease risk. In addition, specific examples of genetic modifier effects of the chromosome 7 gene TMEM106B on various target genes including those causal for Mendelian classes of FTLD - GRN and c9orf72 - have emerged from both genetic cohort studies and mechanistic examinations of biological pathways...
March 2018: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/29970152/tmem106b-haplotypes-have-distinct-gene-expression-patterns-in-aged-brain
#3
Yingxue Ren, Marka van Blitterswijk, Mariet Allen, Minerva M Carrasquillo, Joseph S Reddy, Xue Wang, Thomas G Beach, Dennis W Dickson, Nilüfer Ertekin-Taner, Yan W Asmann, Rosa Rademakers
BACKGROUND: Single nucleotide polymorphisms (SNPs) inherited as one of two common haplotypes at the transmembrane protein 106B (TMEM106B) locus are associated with the risk of multiple neurodegenerative diseases, including frontotemporal lobar degeneration with pathological inclusions of TDP-43. Among the associated variants, rs3173615 (encoding p.T185S) is the only coding variant; however, non-coding variants may also contribute to disease risk. It has been reported that the risk haplotype is associated with higher levels of TMEM106B and increased levels of TMEM106B cause cytotoxicity; however, the precise mechanism through which TMEM106B haplotypes contribute to neurodegeneration is unclear...
July 3, 2018: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/29929528/partial-tmem106b-reduction-does-not-correct-abnormalities-due-to-progranulin-haploinsufficiency
#4
Andrew E Arrant, Alexandra M Nicholson, Xiaolai Zhou, Rosa Rademakers, Erik D Roberson
BACKGROUND: Loss of function mutations in progranulin (GRN) are a major cause of frontotemporal dementia (FTD). Progranulin is a secreted glycoprotein that localizes to lysosomes and is critical for proper lysosomal function. Heterozygous GRN mutation carriers develop FTD with TDP-43 pathology and exhibit signs of lysosomal dysfunction in the brain, with increased levels of lysosomal proteins and lipofuscin accumulation. Homozygous GRN mutation carriers develop neuronal ceroid lipofuscinosis (NCL), an earlier-onset lysosomal storage disorder caused by severe lysosomal dysfunction...
June 22, 2018: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/29926172/corticobasal-degeneration-with-tdp-43-pathology-presenting-with-progressive-supranuclear-palsy-syndrome-a-distinct-clinicopathologic-subtype
#5
Shunsuke Koga, Naomi Kouri, Ronald L Walton, Mark T W Ebbert, Keith A Josephs, Irene Litvan, Neill Graff-Radford, J Eric Ahlskog, Ryan J Uitti, Jay A van Gerpen, Bradley F Boeve, Adam Parks, Owen A Ross, Dennis W Dickson
Corticobasal degeneration (CBD) is a clinically heterogeneous tauopathy, which has overlapping clinicopathologic and genetic characteristics with progressive supranuclear palsy (PSP). This study aimed to elucidate whether transactive response DNA-binding protein of 43 kDa (TDP-43) pathology contributes to clinicopathologic heterogeneity of CBD. Paraffin-embedded sections of the midbrain, pons, subthalamic nucleus, and basal forebrain from 187 autopsy-confirmed CBD cases were screened with immunohistochemistry for phospho-TDP-43...
June 20, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29724592/potential-genetic-modifiers-of-disease-risk-and-age-at-onset-in-patients-with-frontotemporal-lobar-degeneration-and-grn-mutations-a-genome-wide-association-study
#6
Cyril Pottier, Xiaolai Zhou, Ralph B Perkerson, Matt Baker, Gregory D Jenkins, Daniel J Serie, Roberta Ghidoni, Luisa Benussi, Giuliano Binetti, Adolfo López de Munain, Miren Zulaica, Fermin Moreno, Isabelle Le Ber, Florence Pasquier, Didier Hannequin, Raquel Sánchez-Valle, Anna Antonell, Albert Lladó, Tammee M Parsons, NiCole A Finch, Elizabeth C Finger, Carol F Lippa, Edward D Huey, Manuela Neumann, Peter Heutink, Matthis Synofzik, Carlo Wilke, Robert A Rissman, Jaroslaw Slawek, Emilia Sitek, Peter Johannsen, Jørgen E Nielsen, Yingxue Ren, Marka van Blitterswijk, Mariely DeJesus-Hernandez, Elizabeth Christopher, Melissa E Murray, Kevin F Bieniek, Bret M Evers, Camilla Ferrari, Sara Rollinson, Anna Richardson, Elio Scarpini, Giorgio G Fumagalli, Alessandro Padovani, John Hardy, Parastoo Momeni, Raffaele Ferrari, Francesca Frangipane, Raffaele Maletta, Maria Anfossi, Maura Gallo, Leonard Petrucelli, EunRan Suh, Oscar L Lopez, Tsz H Wong, Jeroen G J van Rooij, Harro Seelaar, Simon Mead, Richard J Caselli, Eric M Reiman, Marwan Noel Sabbagh, Mads Kjolby, Anders Nykjaer, Anna M Karydas, Adam L Boxer, Lea T Grinberg, Jordan Grafman, Salvatore Spina, Adrian Oblak, M-Marsel Mesulam, Sandra Weintraub, Changiz Geula, John R Hodges, Olivier Piguet, William S Brooks, David J Irwin, John Q Trojanowski, Edward B Lee, Keith A Josephs, Joseph E Parisi, Nilüfer Ertekin-Taner, David S Knopman, Benedetta Nacmias, Irene Piaceri, Silvia Bagnoli, Sandro Sorbi, Marla Gearing, Jonathan Glass, Thomas G Beach, Sandra E Black, Mario Masellis, Ekaterina Rogaeva, Jean-Paul Vonsattel, Lawrence S Honig, Julia Kofler, Amalia C Bruni, Julie Snowden, David Mann, Stuart Pickering-Brown, Janine Diehl-Schmid, Juliane Winkelmann, Daniela Galimberti, Caroline Graff, Linn Öijerstedt, Claire Troakes, Safa Al-Sarraj, Carlos Cruchaga, Nigel J Cairns, Jonathan D Rohrer, Glenda M Halliday, John B Kwok, John C van Swieten, Charles L White, Bernardino Ghetti, Jill R Murell, Ian R A Mackenzie, Ging-Yuek R Hsiung, Barbara Borroni, Giacomina Rossi, Fabrizio Tagliavini, Zbigniew K Wszolek, Ronald C Petersen, Eileen H Bigio, Murray Grossman, Vivianna M Van Deerlin, William W Seeley, Bruce L Miller, Neill R Graff-Radford, Bradley F Boeve, Dennis W Dickson, Joanna M Biernacka, Rosa Rademakers
BACKGROUND: Loss-of-function mutations in GRN cause frontotemporal lobar degeneration (FTLD). Patients with GRN mutations present with a uniform subtype of TAR DNA-binding protein 43 (TDP-43) pathology at autopsy (FTLD-TDP type A); however, age at onset and clinical presentation are variable, even within families. We aimed to identify potential genetic modifiers of disease onset and disease risk in GRN mutation carriers. METHODS: The study was done in three stages: a discovery stage, a replication stage, and a meta-analysis of the discovery and replication data...
June 2018: Lancet Neurology
https://www.readbyqxmd.com/read/29660838/tdp-43-pathology-in-multiple-system-atrophy-colocalization-of-tdp-43-and-%C3%AE-synuclein-in-glial-cytoplasmic-inclusions
#7
S Koga, W-L Lin, R L Walton, O A Ross, D W Dickson
AIMS: This study aimed to assess clinicopathologic features of transactive response DNA-binding protein of 43 kDa (TDP-43) pathology and its risk factors in multiple system atrophy (MSA). METHODS: Paraffin-embedded sections of the amygdala and basal forebrain from 186 autopsy-confirmed MSA cases were screened with immunohistochemistry for phospho-TDP-43. In cases having TDP-43 pathology, additional brain regions were assessed. Immunohistochemical and immunofluorescence double-staining and immunogold electron microscopy (IEM) were performed to evaluate colocalization of TDP-43 and α-synuclein...
April 16, 2018: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29444246/reply-the-recurrent-mutation-in-tmem106b-also-causes-hypomyelinating-leukodystrophy-in-china-and-is-a-cpg-hotspot
#8
Cas Simons, David Dyment, Marjo S van der Knaap, Nicole I Wolf
No abstract text is available yet for this article.
May 1, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29444210/the-recurrent-mutation-in-tmem106b-also-causes-hypomyelinating-leukodystrophy-in-china-and-is-a-cpg-hotspot
#9
Huifang Yan, Thomas Kubisiak, Haoran Ji, Jiangxi Xiao, Jingmin Wang, Margit Burmeister
No abstract text is available yet for this article.
May 1, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29194508/tmem106b-and-myelination-rare-leukodystrophy-families-reveal-unexpected-connections
#10
Xiaolai Zhou, Rosa Rademakers
No abstract text is available yet for this article.
December 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29186371/a-recurrent-de-novo-mutation-in-tmem106b-causes-hypomyelinating-leukodystrophy
#11
Cas Simons, David Dyment, Stephen J Bent, Joanna Crawford, Marc D'Hooghe, Alfried Kohlschütter, Sunita Venkateswaran, Guy Helman, Bwee-Tien Poll-The, Christine C Makowski, Yoko Ito, Kristin Kernohan, Taila Hartley, Quinten Waisfisz, Ryan J Taft, Marjo S van der Knaap, Nicole I Wolf
Hypomyelinating leukodystrophies are a heterogeneous group of disorders with a clinical presentation that often includes early-onset nystagmus, ataxia and spasticity and a wide range of severity. Using next-generation sequencing techniques and GeneMatcher, we identified four unrelated patients with brain hypomyelination, all with the same recurrent dominant mutation, c.754G>A p.(Asp252Asn), in TMEM106B. The mutation was confirmed as de novo in three of the cases, and the mildly affected father of the fourth affected individual was confirmed as mosaic for this variant...
December 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29146050/progranulin-plasma-levels-predict-the-presence-of-grn-mutations-in-asymptomatic-subjects-and-do-not-correlate-with-brain-atrophy-results-from-the-genfi-study
#12
Daniela Galimberti, Giorgio G Fumagalli, Chiara Fenoglio, Sara M G Cioffi, Andrea Arighi, Maria Serpente, Barbara Borroni, Alessandro Padovani, Fabrizio Tagliavini, Mario Masellis, Maria Carmela Tartaglia, John van Swieten, Lieke Meeter, Caroline Graff, Alexandre de Mendonça, Martina Bocchetta, Jonathan D Rohrer, Elio Scarpini
We investigated whether progranulin plasma levels are predictors of the presence of progranulin gene (GRN) null mutations or of the development of symptoms in asymptomatic at risk members participating in the Genetic Frontotemporal Dementia Initiative, including 19 patients, 64 asymptomatic carriers, and 77 noncarriers. In addition, we evaluated a possible role of TMEM106B rs1990622 as a genetic modifier and correlated progranulin plasma levels and gray-matter atrophy. Plasma progranulin mean ± SD plasma levels in patients and asymptomatic carriers were significantly decreased compared with noncarriers (30...
February 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29056226/a-dementia-associated-risk-variant-near-tmem106b-alters-chromatin-architecture-and-gene-expression
#13
Michael D Gallagher, Marijan Posavi, Peng Huang, Travis L Unger, Yosef Berlyand, Analise L Gruenewald, Alessandra Chesi, Elisabetta Manduchi, Andrew D Wells, Struan F A Grant, Gerd A Blobel, Christopher D Brown, Alice S Chen-Plotkin
Neurodegenerative diseases pose an extraordinary threat to the world's aging population, yet no disease-modifying therapies are available. Although genome-wide association studies (GWASs) have identified hundreds of risk loci for neurodegeneration, the mechanisms by which these loci influence disease risk are largely unknown. Here, we investigated the association between common genetic variants at the 7p21 locus and risk of the neurodegenerative disease frontotemporal lobar degeneration. We showed that variants associated with disease risk correlate with increased expression of the 7p21 gene TMEM106B and no other genes; co-localization analyses implicated a common causal variant underlying both association with disease and association with TMEM106B expression in lymphoblastoid cell lines and human brain...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28888721/tmem106b-and-apoe-polymorphisms-in-chmp2b-mediated-frontotemporal-dementia-ftd-3
#14
Nina Rostgaard, Peter Roos, Esben Budtz-Jørgensen, Peter Johannsen, Gunhild Waldemar, Anne Nørremølle, Suzanne G Lindquist, Susanne Gydesen, Jeremy M Brown, John Collinge, Adrian M Isaacs, Troels T Nielsen, Jørgen E Nielsen
Single-nucleotide polymorphisms in the TMEM106B gene have been identified as a risk factor in frontotemporal dementia (FTD). The major allele of SNP rs3173615 is a risk factor in sporadic FTD, whereas the minor allele seems protective in GRN- and C9orf72-mediated FTD. The role of apolipoprotein E (ApoE) in FTD is uncertain, though an established risk factor in Alzheimer's disease. In a unique Danish family, inherited FTD is caused by a mutation in the CHMP2B gene located on chromosome 3 (FTD-3). In this family, both risk factors TMEM106B and ApoE were analyzed and correlated to age at onset (AAO) and progression in terms of age at institutionalization (AAI) and age at death (AAD)...
November 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28728022/loss-of-tmem106b-ameliorates-lysosomal-and-frontotemporal-dementia-related-phenotypes-in-progranulin-deficient-mice
#15
Zoe A Klein, Hideyuki Takahashi, Mengxiao Ma, Massimiliano Stagi, Melissa Zhou, TuKiet T Lam, Stephen M Strittmatter
Progranulin (GRN) and TMEM106B are associated with several common neurodegenerative disorders including frontotemporal lobar degeneration (FTLD). A TMEM106B variant modifies GRN-associated FTLD risk. However, their functional relationship in vivo and the mechanisms underlying the risk modification remain unclear. Here, using transcriptomic and proteomic analyses with Grn-/- and Tmem106b-/- mice, we show that, while multiple lysosomal enzymes are increased in Grn-/- brain at both transcriptional and protein levels, TMEM106B deficiency causes reduction in several lysosomal enzymes...
July 19, 2017: Neuron
https://www.readbyqxmd.com/read/28477711/association-analysis-of-polymorphisms-in-vmat2-and-tmem106b-genes-for-parkinson-s-disease-amyotrophic-lateral-sclerosis-and-multiple-system-atrophy
#16
Tao Hu, Yongping Chen, Ruwei Ou, Qianqian Wei, Bei Cao, Bi Zhao, Ying Wu, Wei Song, Xueping Chen, Hui-Fang Shang
BACKGROUND: The vesicular monoamine transporter type 2 (VMAT2) and transmembrane Protein 106B (TMEM106B) were reported to be associated with neurodegenerative diseases. Recent studies found that two polymorphisms (rs363371 and rs363324) in VMAT2 might be a risk factor for Parkinson's disease (PD) in Caucasians, while the two other variants (rs1990622 and rs3173615) in TMEM106B increased the risk for frontotemporal dementia (FTD). Considering the overlap between clinical manifestation and pathologic characteristics in neurodegenerative diseases, we conducted a large-sample study to investigate the associations between these four polymorphisms and the risk for PD, sporadic amyotrophic lateral sclerosis (SALS), and multiple system atrophy (MSA) in a Chinese patient population...
June 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28465216/ros1-protein-tyrosine-kinase-inhibitors-in-the-treatment-of-ros1-fusion-protein-driven-non-small-cell-lung-cancers
#17
REVIEW
Robert Roskoski
ROS1 protein-tyrosine kinase fusion proteins are expressed in 1-2% of non-small cell lung cancers. The ROS1 fusion partners include CD74, CCDC6, EZR, FIG, KDELR2, LRIG3, MSN, SDC4, SLC34A2, TMEM106B, TMP3, and TPD52L1. Physiological ROS1 is closely related to the ALK, LTK, and insulin receptor protein-tyrosine kinases. ROS1 is a so-called orphan receptor because the identity of its activating ligand, if any, is unknown. The receptor is expressed during development, but little is expressed in adults and its physiological function is unknown...
July 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/28460069/cognitive-reserve-and-tmem106b-genotype-modulate-brain-damage-in-presymptomatic-frontotemporal-dementia-a-genfi-study
#18
MULTICENTER STUDY
Enrico Premi, Mario Grassi, John van Swieten, Daniela Galimberti, Caroline Graff, Mario Masellis, Carmela Tartaglia, Fabrizio Tagliavini, James B Rowe, Robert Laforce, Elizabeth Finger, Giovanni B Frisoni, Alexandre de Mendonça, Sandro Sorbi, Stefano Gazzina, Maura Cosseddu, Silvana Archetti, Roberto Gasparotti, Marta Manes, Antonella Alberici, Manuel J Cardoso, Martina Bocchetta, David M Cash, Sebastian Ourselin, Alessandro Padovani, Jonathan D Rohrer, Barbara Borroni
Frontotemporal dementia is a heterogeneous neurodegenerative disorder with around a third of cases having autosomal dominant inheritance. There is wide variability in phenotype even within affected families, raising questions about the determinants of the progression of disease and age at onset. It has been recently demonstrated that cognitive reserve, as measured by years of formal schooling, can counteract the ongoing pathological process. The TMEM106B genotype has also been found to be a modifier of the age at disease onset in frontotemporal dementia patients with TDP-43 pathology...
June 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28330615/differential-aging-analysis-in-human-cerebral-cortex-identifies-variants-in-tmem106b-and-grn-that-regulate-aging-phenotypes
#19
Herve Rhinn, Asa Abeliovich
Human age-associated traits, such as cognitive decline, can be highly variable across the population, with some individuals exhibiting traits that are not expected at a given chronological age. Here we present differential aging (Δ-aging), an unbiased method that quantifies individual variability in age-associated phenotypes within a tissue of interest, and apply this approach to the analysis of existing transcriptome-wide cerebral cortex gene expression data from several cohorts totaling 1,904 autopsied human brain samples...
April 26, 2017: Cell Systems
https://www.readbyqxmd.com/read/28299358/a-novel-potentially-targetable-tmem106b-braf-fusion-in-pleomorphic-xanthoastrocytoma
#20
Susan J Hsiao, Matthias A Karajannis, Daniel Diolaiti, Mahesh M Mansukhani, Julia Glade Bender, Andrew L Kung, James H Garvin
Pleomorphic xanthoastrocytoma (PXA) is a World Health Organization (WHO) Grade II glioma occurring primarily in children and young adults. Most PXAs harbor the known activating mutation BRAF V600E. We report a case of locally recurrent PXA with anaplastic features in a 10-yr-old female. The PXA was negative by immunohistochemical (IHC) staining for BRAF V600E mutation. Whole-exome and transcriptome sequencing of the tumor confirmed the absence of BRAF V600E, but identified copy-number alterations (including loss of the tumor suppressor CDKN2A ) and a novel TMEM106B - BRAF fusion...
March 2017: Cold Spring Harbor Molecular Case Studies
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