Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C

[1]  P. Gleeson,et al.  C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking , 2017, Human molecular genetics.

[2]  S. Ferguson.  Beyond indigestion: emerging roles for lysosome-based signaling in human disease. , 2015, Current opinion in cell biology.

[3]  M. Hayden,et al.  Autophagy in Huntington disease and huntingtin in autophagy , 2015, Trends in Neurosciences.

[4]  B. Rogelj,et al.  Unconventional features of C9ORF72 expanded repeat in amyotrophic lateral sclerosis and frontotemporal lobar degeneration , 2014, Neurobiology of Aging.

[5]  R. Erickson,et al.  A marked paucity of granule cells in the developing cerebellum of the Npc1−/− mouse is corrected by a single injection of hydroxypropyl-β-cyclodextrin , 2014, Neurobiology of Disease.

[6]  S. Finkbeiner,et al.  Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models , 2014, Nature chemical biology.

[7]  J. Trojanowski,et al.  Astrocytic TDP-43 Pathology in Alexander Disease , 2014, The Journal of Neuroscience.

[8]  D. Rubinsztein,et al.  Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species , 2014, Journal of Cell Science.

[9]  E. Kremmer,et al.  Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis , 2014, Acta Neuropathologica.

[10]  R. Jaenisch,et al.  Impaired autophagy in the lipid-storage disorder Niemann-Pick type C1 disease. , 2013, Cell reports.

[11]  Christian Haass,et al.  Stress granules in neurodegeneration – lessons learnt from TAR DNA binding protein of 43 kDa and fused in sarcoma , 2013, The FEBS journal.

[12]  Oliver D. King,et al.  Stress granules as crucibles of ALS pathogenesis , 2013, The Journal of cell biology.

[13]  M. Fiorenza,et al.  Multiple TSC22D4 iso‐/phospho‐glycoforms display idiosyncratic subcellular localizations and interacting protein partners , 2013, The FEBS journal.

[14]  C. Beltrami,et al.  A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient’s skin , 2013, Orphanet Journal of Rare Diseases.

[15]  A. Lieberman,et al.  Autophagic dysfunction in a lysosomal storage disorder due to impaired proteolysis , 2013, Autophagy.

[16]  B. Wolozin.  Regulated protein aggregation: stress granules and neurodegeneration , 2012, Molecular Neurodegeneration.

[17]  A. Lieberman,et al.  Impaired proteolysis underlies autophagic dysfunction in Niemann-Pick type C disease. , 2012, Human molecular genetics.

[18]  A. Kakita,et al.  p62/sequestosome 1 binds to TDP‐43 in brains with frontotemporal lobar degeneration with TDP‐43 inclusions , 2012, Journal of neuroscience research.

[19]  E. Buratti,et al.  TDP-43: gumming up neurons through protein-protein and protein-RNA interactions. , 2012, Trends in biochemical sciences.

[20]  J. Trojanowski,et al.  Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration , 2011, Nature Reviews Neuroscience.

[21]  W. Pavan,et al.  Oxidative stress in Niemann-Pick disease, type C. , 2010, Molecular genetics and metabolism.

[22]  John Q. Trojanowski,et al.  TAR DNA-binding protein 43 in neurodegenerative disease , 2010, Nature Reviews Neurology.

[23]  M. Farrer,et al.  Elucidating the genetics and pathology of Perry syndrome , 2010, Journal of the Neurological Sciences.

[24]  A. Caccamo,et al.  Rapamycin Rescues TDP-43 Mislocalization and the Associated Low Molecular Mass Neurofilament Instability , 2009, The Journal of Biological Chemistry.

[25]  K. Jellinger.  Recent advances in our understanding of neurodegeneration , 2009, Journal of Neural Transmission.

[26]  Zhenghong Qin,et al.  The lysosome and neurodegenerative diseases. , 2009, Acta biochimica et biophysica Sinica.

[27]  A. Lieberman,et al.  Tau deletion exacerbates the phenotype of Niemann-Pick type C mice and implicates autophagy in pathogenesis. , 2009, Human molecular genetics.

[28]  A. D’Amico,et al.  Molecular analysis of NPC1 and NPC2 gene in 34 Niemann–Pick C Italian Patients: identification and structural modeling of novel mutations , 2009, neurogenetics.

[29]  B. Bembi,et al.  Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone , 2008, Journal of cellular and molecular medicine.

[30]  Murray Grossman,et al.  TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis , 2008, The Lancet Neurology.

[31]  A. Isaacs,et al.  Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease , 2007, The Journal of cell biology.

[32]  D. Dickson,et al.  TDP‐43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease , 2007, Annals of neurology.

[33]  H. Akiyama,et al.  TDP-43 is deposited in the Guam parkinsonism-dementia complex brains. , 2007, Brain : a journal of neurology.

[34]  Bruce L. Miller,et al.  Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis , 2006, Science.

[35]  L. Mucke,et al.  Antiamyloidogenic and Neuroprotective Functions of Cathepsin B: Implications for Alzheimer's Disease , 2006, Neuron.

[36]  S. Walkley,et al.  Consequences of NPC1 and NPC2 loss of function in mammalian neurons. , 2004, Biochimica et biophysica acta.

[37]  A. Sidhu,et al.  Neurodegeneration in Niemann-Pick type C disease mice , 2001, Experimental Brain Research.

[38]  S. Walkley,et al.  Critical role for glycosphingolipids in Niemann-Pick disease type C , 2001, Current Biology.

[39]  H. Ninomiya,et al.  [Niemann-Pick disease type C]. , 2001, Nihon rinsho. Japanese journal of clinical medicine.

[40]  B. Ghetti,et al.  Neuroserpin Mutation S52R Causes Neuroserpin Accumulation in Neurons and Is Associated with Progressive Myoclonus Epilepsy , 2000, Journal of neuropathology and experimental neurology.

[41]  P. Mathews,et al.  The Endosomal-Lysosomal System of Neurons in Alzheimer's Disease Pathogenesis: A Review , 2000, Neurochemical Research.

[42]  M. Swanson,et al.  hnRNP complexes: composition, structure, and function. , 1999, Current opinion in cell biology.

[43]  W. Pavan,et al.  Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene. , 1997, Science.

[44]  B. Ghetti,et al.  A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. , 1991, Science.

[45]  E. Buratti.  Functional Significance of TDP-43 Mutations in Disease. , 2015, Advances in genetics.

[46]  E. Buratti,et al.  The molecular links between TDP-43 dysfunction and neurodegeneration. , 2009, Advances in genetics.

[47]  B. Ghetti,et al.  Neurofibrillary tangles in Niemann-Pick disease type C , 2004, Acta Neuropathologica.