Affiliation: National Institutes of Health
- 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...
- 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...
- 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...