Condition: Perry Syndrome


rs121909342 in DCTN1 gene and Perry Syndrome PMID 12627231 2003 Mutant dynactin in motor neuron disease.

PMID 23143281 2013 The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes.

PMID 16505168 2006 A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation.

PMID 18094236 2007 The G59S mutation in p150(glued) causes dysfunction of dynactin in mice.

PMID 27573046 2016 Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation.

PMID 19279216 2009 Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration.

PMID 18364389 2008 Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin.

PMID 25185702 2014 Dynactin functions as both a dynamic tether and brake during dynein-driven motility.

PMID 23874158 2013 Dynactin subunit p150(Glued) is a neuron-specific anti-catastrophe factor.

PMID 24676999 2014 A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy.

PMID 26972003 2016 α-Tubulin Tyrosination and CLIP-170 Phosphorylation Regulate the Initiation of Dynein-Driven Transport in Neurons.

PMID 19136952 2009 DCTN1 mutations in Perry syndrome.

PMID 24881494 2014 Three families with Perry syndrome from distinct parts of the world.