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The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter
Eija Siintola et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Mutation of SOD1 in ALS: a gain of a loss of function
Daniela Sau et al.
HUMAN MOLECULAR GENETICS (2007)
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
Matt Baker et al.
NATURE (2006)
Mitochondrial damage due to SOD1 deficiency in SH-SY5Y neuroblastoma cells: a rationale for the redundancy of SOD1
Katia Aquilano et al.
FASEB JOURNAL (2006)
Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene
Peter M. Andersen
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2006)
Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration
AM Pittman et al.
JOURNAL OF MEDICAL GENETICS (2005)
Controlled elimination of intracellular H2O2:: Regulation of peroxiredoxin, catalase, and glutathione peroxidase via post-translational modification
SG Rhee et al.
ANTIOXIDANTS & REDOX SIGNALING (2005)
Kinesin transports RNA: Isolation and characterization of an RNA-transporting granule
Y Kanai et al.
NEURON (2004)
Mitochondrial protein oxidation in yeast mutants lacking manganese- (MnSOD) or copper- and zinc-containing superoxide dismutase (CuZnSOD) - Evidence that MnSOD and CuZnSOD have both unique and overlapping functions in protecting mitochondrial proteins from oxidative damage
KM O'Brien et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A
CH Xia et al.
JOURNAL OF CELL BIOLOGY (2003)
Misfolded CuZnSOD and amyotrophic lateral sclerosis
JS Valentine et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Superoxide dismutase multigene family: A comparison of the CuZn-SOD (SOD1), Mn-SOD (SOD2), and EC-SOD (SOD3) gene structures, evolution, and expression
IN Zelko et al.
FREE RADICAL BIOLOGY AND MEDICINE (2002)
Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia
P Poorkaj et al.
ARCHIVES OF NEUROLOGY (2001)
Neurodegenerative tauopathies
VMY Lee et al.
ANNUAL REVIEW OF NEUROSCIENCE (2001)
Deficiency of T2K leads to apoptotic liver degeneration and impaired NF-κB-dependent gene transcription
M Bonnard et al.
EMBO JOURNAL (2000)