 | | VARIANT: 1639v1 | |
| Entry |
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| Name |
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| Gene |
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
nt06464 Amyotrophic lateral sclerosis nt06466 Pathways of neurodegeneration nt06515 Regulation of kinetochore-microtubule interactions |
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| Disease |
| H00058 | Amyotrophic lateral sclerosis (ALS) |
| H00856 | Distal hereditary motor neuropathies |
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| Reference |
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| Authors |
Stockmann M, Meyer-Ohlendorf M, Achberger K, Putz S, Demestre M, Yin H, Hendrich C, Linta L, Heinrich J, Brunner C, Proepper C, Kuh GF, Baumann B, Langer T, Schwalenstocker B, Braunstein KE, von Arnim C, Schneuwly S, Meyer T, Wong PC, Boeckers TM, Ludolph AC, Liebau S |
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| Title |
The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes. |
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| Journal |
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| Reference |
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| Authors |
Levy JR, Sumner CJ, Caviston JP, Tokito MK, Ranganathan S, Ligon LA, Wallace KE, LaMonte BH, Harmison GG, Puls I, Fischbeck KH, Holzbaur EL |
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| Title |
A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. |
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| Journal |
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| Reference |
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| Authors |
Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, Floeter MK, Bidus K, Drayna D, Oh SJ, Brown RH Jr, Ludlow CL, Fischbeck KH |
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| Title |
Mutant dynactin in motor neuron disease. |
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| Journal |
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| LinkDB |
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