Mutant dynactin in motor neuron disease

By I. Puls, Catherine Jonnakuty, Bernadette H. LaMonte, E. Holzbaur, M. Tokito, E. Mann, M. Floeter, K. Bidus, D. Drayna, Shin J Oh and 3 more. Nature Genetics, 2003

1,001 citations recorded by the source corpus.

Subfields: Cellular and Molecular Neuroscience, Genetics, Neurology

View Paper: https://www.semanticscholar.org/paper/91ed9122a7c33d94271e0088c60e920327511310

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cellular and Molecular Neuroscience

1. D. Cleveland
2. N. Bonini
3. Volkmar Lessmann
4. D. Rubinsztein
5. N. Mizushima
6. M. Jäättelä
7. M. Høyer-Hansen

In Genetics

1. Shinsuke Niwa
2. Yosuke Tanaka
3. D. Cleveland
4. N. Hirokawa
5. M. Polymenidou

In Neurology

1. M. Polymenidou
2. E. Holzbaur
3. D. Cleveland
4. N. Bonini
5. D. Rubinsztein

Citations in the corpus

• Amyotrophic lateral sclerosis is a distal axonopathy: evidence in mice and man. (2004, background): “grade axonal transport leading to motor neuron death support a peripheral localization for factors initiating the onset of this disease (Hafezparast et al., 2003; LaMonte et al., 2002; Puls et al., 2003).”
• Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis (2012, neutral): “Rarely, mutations in genes encoding neurofilament heavy polypeptide (NF-H) 24 , peripherin (PRPH) 25 , and dynactin (DCTN1) 26 are associated with ALS.”
• Disruption of axonal transport by loss of huntingtin or expression of pathogenic polyQ proteins in Drosophila. (2003, positive): “SK (Strategene) in a motor neuron degeneration in mice and humans (Ha- three part ligation. The 2.3 kb EagI/KpnI fragment was excised and fezparast et al., 2003; Puls et al., 2003).”
• Molecular motors in neurons: transport mechanisms and roles in brain function, development, and disease. (2010, positive): “…Glued ) Human mutation, Mutant tg mouse Motor neuron disease, ALS Vocal fold paralysis, facial weakness, distal limb muscle weakness and atrophy Retrograde transport; mutant protein aggregates Puls et al., 2003; Lai et al., 2007; Levy et al., 2006 n.a. is used as an abbreviation for not applicable.”
• Non-commercial Research and Educational Use including without Limitation Use in Instruction at Your Institution, Sending It to Specific Colleagues That You Know, and Providing a Copy to Your Institution's Administrator. All Other Uses, Reproduction and Distribution, including without Limitation Comm (2005, neutral): “This number is small for molecules with a limited number of spins (66) and high symmetry.”
• Non–cell autonomous toxicity in neurodegenerative disorders: ALS and beyond (2009, background): “Reduction in retrograde transport by mutation in dynactin, an activator of the retrograde motor cytoplasmic dynein, provokes human motor neuron disease that is substantially less severe than ALS (Puls et al., 2003), whereas mutation in dynein provokes loss of sensory neurons that report position (pr”
• The roles of intracellular protein-degradation pathways in neurodegeneration (2006, background): “Dyneins are motor proteins that typically move cargoes towards the cell centre along microtubules, and components of this machinery are genetically compromised in some forms of motor neuron disease, either directly (for example, by a dynactin mutation in one form of human motor neuron diseas”