|
Perry Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Recently, we reported colocalization of phosphorylated α-synuclein (p-SNCA) and the largest subunit of dynactin (DCTN1) in Lewy body (LB)-like structures in Perry syndrome.
|
30215870 |
2018 |
|
Perry Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Gene analysis identified a p.F52L mutation in DCTN1 and she was diagnosed with Perry syndrome.
|
29499916 |
2018 |
|
Perry Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To test the hypothesis that the G71A mutation in the DCTN1 gene is sufficient to cause Perry syndrome, we generated DCTN1<sup>G71A</sup> transgenic mice.
|
29273399 |
2018 |
|
Perry Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic heterogeneity of motor neuropathies.
|
28251916 |
2017 |
|
Perry Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In addition, DCTN1 mutations were identified in a family with motor-neuron disease before the discovery in PS.
|
28625595 |
2017 |
|
Perry Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Dynactin 1 (DCTN1) gene have been demonstrated to result in various neurodegenerative diseases, including distal hereditary motor neuropathy type 7B (dHMN7B), Perry syndrome, amyotrophic lateral sclerosis and amyotrophic lateral sclerosis‑frontotemporal dementia.
|
27573046 |
2016 |
|
Perry Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To develop a novel model, we generated induced pluripotent stem cells (iPSCs) from a Perry syndrome patient with F52L mutation in DCTN1, and describe clinical and neuroimaging investigations.
|
27346608 |
2016 |
|
Perry Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in dynactin DCTN1 (p150(glued)) have previously been linked to familial motor neuron disease or Perry syndrome (PS) consisting of depression, parkinsonism and hypoventilation.
|
27132499 |
2016 |
|
Perry Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing.
|
27025386 |
2016 |
|
Perry Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
α-Tubulin Tyrosination and CLIP-170 Phosphorylation Regulate the Initiation of Dynein-Driven Transport in Neurons.
|
26972003 |
2016 |
|
Perry Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in dynactin DCTN1 (p150(glued)) have previously been linked to familial motor neuron disease or Perry syndrome (PS) consisting of depression, parkinsonism and hypoventilation.
|
27132499 |
2016 |
|
Perry Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Alteration of Motor Protein Expression Involved in Bidirectional Transport in Peripheral Blood Mononuclear Cells of Patients with Amyotrophic Lateral Sclerosis.
|
26954557 |
2016 |
|
Perry Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
To develop a novel model, we generated induced pluripotent stem cells (iPSCs) from a Perry syndrome patient with F52L mutation in DCTN1, and describe clinical and neuroimaging investigations.
|
27346608 |
2016 |
|
Perry Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation.
|
27573046 |
2016 |
|
Perry Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the DCTN1 gene have been previously associated with amyotrophic lateral sclerosis and with Perry syndrome, a rare autosomal dominant disorder characterized by weight loss, parkinsonism, central hypoventilation, and psychiatric disturbances.
|
24343258 |
2014 |
|
Perry Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Dynactin functions as both a dynamic tether and brake during dynein-driven motility.
|
25185702 |
2014 |
|
Perry Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Three families with Perry syndrome from distinct parts of the world.
|
24881494 |
2014 |
|
Perry Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Perry syndrome (PS) caused by DCTN1 gene mutation is clinically characterized by autosomal dominant parkinsonism, depression, severe weight loss, and hypoventilation.
|
24484619 |
2014 |
|
Perry Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Depression, parkinsonism, and hypoventilation (Perry syndrome) or familial motor neuron disease have been linked to mutations in dynactin P150(Glued) (DCTN1).
|
24676999 |
2014 |
|
Perry Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Depression, parkinsonism, and hypoventilation (Perry syndrome) or familial motor neuron disease have been linked to mutations in dynactin P150(Glued) (DCTN1).
|
24676999 |
2014 |
|
Perry Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Strikingly, a mutation in p150(Glued) causal for the lethal neurodegenerative disorder Perry syndrome abrogates this anti-catastrophe activity.
|
23874158 |
2013 |
|
Perry Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes.
|
23143281 |
2013 |
|
Perry Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The genetic cause of Perry syndrome was recently identified with five mutations in the dynactin gene (DCTN1) segregating with disease in eight families.
|
19732908 |
2010 |
|
Perry Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Point mutations within the CAP-gly domain of the p150(Glued) subunit of the dynactin complex have been identified in patients with distal spinal bulbar muscular atrophy (dSBMA) and Perry's syndrome.
|
20518521 |
2010 |
|
Perry Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure.
|
20437543 |
2010 |