Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement
Published 2017 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement
Authors
Keywords
-
Journal
Scientific Reports
Volume 7, Issue 1, Pages -
Publisher
Springer Nature
Online
2017-06-08
DOI
10.1038/s41598-017-02840-8
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Two cases of Vici syndrome associated with Idiopathic Thrombocytopenic Purpura (ITP) with a review of the literature
- (2016) Katherine Huenerberg et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Aberrant splicing induced by the most commonEPG5mutation in an individual with Vici syndrome
- (2016) Megan S. Kane et al. BRAIN
- EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
- (2016) Susan Byrne et al. BRAIN
- De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux
- (2016) Atsushi Fujita et al. JOURNAL OF HUMAN GENETICS
- The Vici Syndrome Protein EPG5 Is a Rab7 Effector that Determines the Fusion Specificity of Autophagosomes with Late Endosomes/Lysosomes
- (2016) Zheng Wang et al. MOLECULAR CELL
- Vici syndrome in siblings born to consanguineous parents
- (2015) Sener Tasdemir et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism
- (2015) Darius Ebrahimi-Fakhari et al. BRAIN
- Severe Central Sleep Apnea in Vici Syndrome
- (2015) K. El-Kersh et al. PEDIATRICS
- Pathological changes in cardiac muscle and cerebellar cortex in Vici syndrome
- (2014) Rie Miyata et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon ofEPG5and review of the literature
- (2014) Nadja Ehmke et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- KIF1A mutation in a patient with progressive neurodegeneration
- (2014) Nobuhiko Okamoto et al. JOURNAL OF HUMAN GENETICS
- Ophthalmologic Features of Vici Syndrome
- (2014) Francis M. Filloux et al. JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS
- 201st ENMC International Workshop: Autophagy in muscular dystrophies – Translational approach, 1–3 November 2013, Bussum, The Netherlands
- (2014) Luciano Merlini et al. NEUROMUSCULAR DISORDERS
- Role ofEpg5in selective neurodegeneration and Vici syndrome
- (2013) Yan G. Zhao et al. Autophagy
- Mice deficient inEpg5exhibit selective neuronal vulnerability to degeneration
- (2013) Hongyu Zhao et al. JOURNAL OF CELL BIOLOGY
- The autophagosome: origins unknown, biogenesis complex
- (2013) Christopher A. Lamb et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Towards Clinical Molecular Diagnosis of Inherited Cardiac Conditions: A Comparison of Bench-Top Genome DNA Sequencers
- (2013) Xinzhong Li et al. PLoS One
- Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
- (2012) Thomas Cullup et al. NATURE GENETICS
- Vici Syndrome Associated With Sensorineural Hearing Loss and Laryngomalacia
- (2012) Murat Özkale et al. PEDIATRIC NEUROLOGY
- Vici syndrome-A rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy
- (2011) Edith Said et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Immunodeficiency in Vici syndrome: A heterogeneous phenotype
- (2011) Andrea Finocchi et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The Role of Atg Proteins in Autophagosome Formation
- (2011) Noboru Mizushima et al. Annual Review of Cell and Developmental Biology
- Autophagy in Lysosomal Myopathies
- (2011) May Christine V. Malicdan et al. BRAIN PATHOLOGY
- Core Myopathies
- (2011) Heinz Jungbluth et al. Seminars in Pediatric Neurology
- Vici syndrome associated with unilateral lung hypoplasia and myopathy
- (2010) Mohammed Al-Owain et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy
- (2010) Verity McClelland et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- C. elegans Screen Identifies Autophagy Genes Specific to Multicellular Organisms
- (2010) Ye Tian et al. CELL
- Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients
- (2008) Chayim Can Schell-Apacik et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Autophagy fights disease through cellular self-digestion
- (2008) Noboru Mizushima et al. NATURE
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now