Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

DCTN1 p.K56R in progressive supranuclear palsy.

Parkinsonism & related disorders - 1 Jul 2016

Gustavsson Emil K, Trinh Joanne, Guella Ilaria, Szu-Tu Chelsea, Khinda Jaskaran, Lin Chin-Hsien, Wu Ruey-Meei, Stoessl Jon, Appel-Cresswell Silke, McKeown Martin, Rajput Alex, Rajput Ali H, Petersen Maria Skaalum, Jeon Beom S, Aasly Jan O, Farrer Matthew J

Abstract excerpt

INTRODUCTION: 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. METHODS: We sequenced DCTN1 in 636 Caucasian patients with parkinsonism (Parkinson's disease and Parkinson-plus syndromes) and 508 healthy controls. Variants (MAF < 0.01) were subsequently genotyped in Caucasian...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to Aged, 80 and over

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dynactin Complex

Share to HEK293 Cells

Share to Parkinson Disease

Share to Parkinsonian Disorders

Share to Supranuclear Palsy, Progressive

Share to Young Adult

Source

Identifiers

PMID: 27132499
DOI: 10.1016/j.parkreldis.2016.04.025

Genes

DCTN1
MAF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

DCTN1 p.K56R in progressive supranuclear palsy.PMID 27132499Read ↗

A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy.Semantic proximity Read ↗

Novel Variants in DCTN1 Associated with Perry Disease: A Case Series from a Chinese Parkinsonism Cohort.Semantic proximity Read ↗

A novel Q93H missense mutation in DCTN1 caused distal hereditary motor neuropathy type 7B and Perry syndrome from a Chinese family.Semantic proximity Read ↗

The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes.Semantic proximity Read ↗

Dynactin p150Glued–Deficiency in Midbrain Dopaminergic Neurons Leads to Progressive Neurodegeneration and Endoplasmic Reticulum DysfunctionSemantic proximity Read ↗

DCTN1 mutations in Perry syndrome.Semantic proximity Read ↗

DCTN1-related neurodegeneration: Perry syndrome and beyond.Semantic proximity Read ↗

Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome.Semantic proximity Read ↗

Elucidating the genetics and pathology of Perry syndrome.Semantic proximity Read ↗

DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes.Semantic proximity Read ↗

Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD.Semantic proximity Read ↗

Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.