Affiliation: National Institutes of Health
- Distal spinal and bulbar muscular atrophy caused by dynactin mutationImke Puls
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1416, USA
Ann Neurol 57:687-94. 2005..This mutation of dynactin, a ubiquitously expressed protein, causes a unique pattern of motor neuron degeneration that is associated with the accumulation of dynein and dynactin in neuronal inclusions...
- Mutant dynactin in motor neuron diseaseImke Puls
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA
Nat Genet 33:455-6. 2003..Binding assays show decreased binding of the mutant protein to microtubules. Our results show that dysfunction of dynactin-mediated transport can lead to human motor neuron disease...
- A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregationJennifer R Levy
Department of Physiology, School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
J Cell Biol 172:733-45. 2006..These data support a model in which a point mutation in p150Glued causes both loss of dynein/dynactin function and gain of toxic function, which together lead to motor neuron cell death...