TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Keywords

Amyotrophic lateral sclerosis, TARDBP, Neurodegeneration, Biology, Genetics

References

• Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q.Deborah Ruddy, M. Parton, Ammar Al‐Chalabi — 2003
• Gene expression analysis of frontotemporal lobar degeneration of the motor neuron disease type with ubiquitinated inclusionsManjari Mishra, Tatjana Paunesku, Gayle E. Woloschak — 2007
• Frontotemporal lobar degeneration with motor neuron disease-type inclusions predominates in 76 cases of frontotemporal degenerationAnne M. Lipton, Charles L. White, Eileen H. Bigio — 2004
• Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS.Ilse Gijselinck, Kristel Sleegers, Sebastiaan Engelborghs — 2009
• Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis.Peter C. Sapp, Betsy A. Hosler, Diane McKenna‐Yasek — 2003
• TDP-43 gene analysis in frontotemporal lobar degeneration.Sara Rollinson, Julie S. Snowden, David Neary — 2007
• Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral SclerosisManuela Neumann, Deepak M. Sampathu, Linda K. Kwong — 2006
• A Novel CpG-free Vertebrate Insulator Silences the Testis-specific SP-10 Gene in Somatic TissuesMayuresh M. Abhyankar, Craig Urekar, Prabhakara P. Reddi — 2007
• Truncated wild-type SOD1 and FALS-linked mutant SOD1 cause neural cell death in the chick embryo spinal cord.Ghanashyam D. Ghadge, Lijun Wang, Kamal Sharma — 2006
• Familial amyotrophic lateral sclerosisChristopher E. Shaw, Zinat E. Enayat, John Powell — 1997
• TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.Tetsuaki Arai, Masato Hasegawa, Haruhiko Akiyama — 2006
• An epidemic of complex dysmorphologic syndromes in southeast Spain?Francisco Cañabate Reche — 1999
• TAR-DNA Binding Protein 43 in Pick DiseaseStefanie H. Freeman, Tara L. Spires‐Jones, Bradley T. Hyman — 2008
• Ubiquitin-immunoreactive intraneuronal inclusions in amyotrophic lateral sclerosis. Morphology, distribution, and specificity.P. Nigel Leigh, Helen Whitwell, O. Garofalo — 1991
• TDP-43 Binds Heterogeneous Nuclear Ribonucleoprotein A/B through Its C-terminal TailEmanuele Buratti, Antonia Brindisi, Maurizio Giombi — 2005
• Progress in the pathogenesis of amyotrophic lateral sclerosisChristopher E. Shaw, Ammar Al‐Chalabi, Nigel Leigh — 2001
• TDP‐43 in amyotrophic lateral sclerosis: Pathophysiology or patho‐babel?Jeffrey D. Rothstein — 2007
• TDP‐43 immunoreactivity in hippocampal sclerosis and Alzheimer's diseaseCatalina Amador, Wen‐Lang Lin, Zeshan Ahmed — 2007
• Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosisD.R. Rosen, Teepu Siddique, David T. Patterson — 1993
• A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2Shinji Hadano, Collette K. Hand, Hitoshi Osuga — 2001

Cited by

• BEYOND BIOMARKER DISCOVERY: RETINOID SIGNALING IN MOTOR NEURONS AND AMYOTROPHIC LATERAL SCLEROSISChristi L. Kolarcik — 2010
• Cytoplasmic Inclusions of TDP-43 in Neurodegenerative Diseases: A Potential Role for CaspasesTroy T. Rohn — 2009
• Frontotemporale LobärdegenerationenRatri Pusparini — 2009
• FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysisIan P. Blair, Kelly L. Williams, Sadaf T. Warraich — 2009
• Oxidative stress in ALS: key role in motor neuron injury and therapeutic target.Siân C. Barber, Pamela J. Shaw — 2010
• Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosisHuiling Xiong, Jinyang Wang, Yi‐Min Sun — 2010
• RNA processing pathways in amyotrophic lateral sclerosisGomez Corredera, María del Puerto — 2010
• The neurobiology of amyotrophic lateral sclerosis隆司 神吉, 正義 永田, 忠男 宇山 — 2010
• Do twin studies still have anything to teach us about the genetics of amyotrophic lateral sclerosis?大我 若林 — 2010
• Association between divalent metal transport 1 encoding gene (SLC11A2) and disease duration in amyotrophic lateral sclerosis.Giaime Pala — 2011
• Rodent Models of TDP-43 Proteinopathy: Investigating the Mechanisms of TDP-43-Mediated NeurodegenerationNur Fatiha, Amat Sani — 2011
• [Creation of an animal model of ALS by overexpression of TDP-43].Takanori Yokota — 2010
• Can Parkinson's disease pathology be propagated from one neuron to another?菜奈子 田宮, 紀子 天利, 勝敬 村田 — 2012
• Mutant TDP-43 in motor neurons promotes the onset and progression of ALS in rats.Caterina Pagnini — 2012
• Truncating mutations in FUS/TLS give rise to a more aggressive ALS‐phenotype than missense mutations: a clinico‐genetic study in GermanyItaru Koizumi — 2013
• Optineurin and amyotrophic lateral sclerosisHirofumi Maruyama, Hideshi Kawakami — 2013
• Altered astrocytic expression of TDP-43 does not influence motor neuron survival.A. A. Kirillov, Anna Melnikov — 2013
• Vitamin D as a Potential Therapy in Amyotrophic Lateral SclerosisSarah Klassen — 2014
• Targeting TDP-43 in neurodegenerative diseases祗園 みどり — 2014
• Sporadic and hereditary amyotrophic lateral sclerosis (ALS).Начкин Александр Иванович — 2015

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