Human | LOC643387 | 643387 | TAR DNA binding protein pseudogene | the absence of pathological TDP-43 in cases with SOD1 mutations implies that motor neuron degeneration |
Human | PPARGC1B | 133522 | peroxisome proliferator-activated receptor gamma, coactivator 1 beta | Recent studies have elucidated the function of the PGC-1 coactivators in different tissues and have highlighted the implications of PGC-1 dysregulation in diseases such as diabetes, obesity, cardiomyopathy, or neurodegeneration |
Human | LRRK2 | 120892 | leucine-rich repeat kinase 2 | confirm association of LRRK2 heterozygous mutation (Gly2019 ser)with neurodegeneration, and identify a common mutation associated with dominantly inherited Parkinson's disease dysfunction of LRRK2 protein leads to neurodegeneration in parkinson disease--REVIEW LRRK2 Gly2019Ser in Arab-Berber patients from Tunisia considerably increases susceptibility to neuronal degeneration, although the process might be mediated by many triggers |
Human | PANK2 | 80025 | pantothenate kinase 2 | We demonstrate that the G521R mutation results in an unstable and inactive protein in tremor-predominant neurodegeneration Direct sequencing of the neurodegeneration patient's genomic DNA revealed homozygous base substitutions in the pantothenate kinase gene (PANK2): the A764-->G substitution (N245S) due to consanguinity of her parents These results suggest that neurodegeneration with brain iron accumulation (NBIA; formerly Hallervorden-Spatz disease) is caused by altered neuronal mitochondrial lipid metabolism caused by mutations disrupting PanK2 protein levels and catalytic activity analysis of the homodimeric structures of the catalytic cores of PanK1alpha and PanK3 in complex with acetyl-CoA and the the structural effects of the PanK2 mutations that have been implicated in neurodegeneration |
Human | PANK3 | 79646 | pantothenate kinase 3 | analysis of the homodimeric structures of the catalytic cores of PanK1alpha and PanK3 in complex with acetyl-CoA and the the structural effects of the PanK2 mutations that have been implicated in neurodegeneration |
Human | TDP1 | 55775 | tyrosyl-DNA phosphodiesterase 1 | TDP1 has a role in DNA single-strand break repair and neurodegeneration [review] |
Human | PANK1 | 53354 | pantothenate kinase 1 | analysis of the homodimeric structures of the catalytic cores of PanK1alpha and PanK3 in complex with acetyl-CoA and the the structural effects of the PanK2 mutations that have been implicated in neurodegeneration |
Human | HTRA2 | 27429 | HtrA serine peptidase 2 | On the basis of functional genomics, our results provide a novel link between mitochondrial dysfunction and neurodegeneration in PD |
Human | SLC7A11 | 23657 | solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 | Small interfering RNA-mediated xCT silencing in gliomas inhibits neurodegeneration and alleviates brain edema |
Human | BACE1 | 23621 | beta-site APP-cleaving enzyme 1 | high levels of BACE1 activity are sufficient to elicit neurodegeneration and neurological decline in vivo |
Human | TARDBP | 23435 | TAR DNA binding protein | The discovery of a missense mutation Ala-315-Thr in a family with dominantly inherited motor neuron disease provides a direct link between altered TDP-43 function and neurodegeneration |
Human | PARK7 | 11315 | parkinson protein 7 | DJ-1 has a role in neurodegeneration offers and progression of Parkinson's disease (review) |
Human | SNCAIP | 9627 | synuclein, alpha interacting protein | Changes in synuclein expression presage neurodegeneration in a Drosophila model of Parkinson disease Synphilin-1A may contribute to neuronal degeneration in alpha-synuclein mutations and provides insights into the role of inclusion bodies in neurodegenerative disorders role of synphilin-1 in synaptic function and protein degradation and in the molecular mechanisms leading to neurodegeneration in Parkinson disease |
Human | ADAMTS1 | 9510 | ADAM metallopeptidase with thrombospondin type 1 motif, 1 | ADAMTS-1-immunoreactivity was manifold increased in brain with Down syndrome and neurodegeneration |
Human | CYP7B1 | 9420 | cytochrome P450, family 7, subfamily B, polypeptide 1 | Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration |
Human | VAPB | 9217 | VAMP (vesicle-associated membrane protein)-associated protein B and C | VAPB is abundant in motor neurons and the P56S substitution causes aggregation of mutant VAPB in immobile tubular ER clusters, perturbs FFAT-motif binding, and traps endogenous VAP in mutant aggregates, which may cause motor neuron degeneration |
Human | SLC25A14 | 9016 | solute carrier family 25 (mitochondrial carrier, brain), member 14 | UCP5 might be physiologically important in the pathology of oxidative stress-induced neurodegeneration |
Human | CDK5R1 | 8851 | cyclin-dependent kinase 5, regulatory subunit 1 (p35) | phosphorylation of Thr(138) predominantly defines the susceptibility of p35 to calpain-dependent cleavage and dephosphorylation of this site is a critical determinant of Cdk5-p25-induced cell death associated with neurodegeneration |
Human | BECN1 | 8678 | beclin 1, autophagy related | beclin 1 deficiency disrupts neuronal autophagy, modulates APP metabolism, and promotes neurodegeneration |
Human | PLA2G6 | 8398 | phospholipase A2, group VI (cytosolic, calcium-independent) | mapped a locus for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a group VI phospholipase A2, in NBIA, INAD and Karak syndrome |
Human | GAN | 8139 | gigaxonin | Ubiquitin-proteasome system shown to be responsible for neurodegeneration occurring in GAN-null neurons and plays crucial roles in cytoskeletal functions and dynamics |
Human | ANP32A | 8125 | acidic (leucine-rich) nuclear phosphoprotein 32 family, member A | LANP could play a key role in neuronal development and/or neurodegeneration by its interactions with microtubule associated proteins |
Human | PABPN1 | 8106 | poly(A) binding protein, nuclear 1 | Expanded PABPN1, presumably via the toxic effects of its polyalanine tract, leads to inclusion formation and neurodegeneration in both the transgenic mouse and the human |
Human | WT1 | 7490 | Wilms tumor 1 | Wilms' tumor suppressor is a mediator of neuronal degeneration associated with the pathogenesis of Alzheimer's disease |
Human | VEGFA | 7422 | vascular endothelial growth factor A | In this review we critically analyze the data supporting the notion that VEGF is a factor involved in motor neuron degeneration and review the studies linking VEGF to other diseases of the peripheral and central nervous systems |