Role ofEpg5in selective neurodegeneration and Vici syndrome

Motor Neuron-specific Disruption of Proteasomes, but Not Autophagy, Replicates Amyotrophic Lateral Sclerosis

(2012) Yoshitaka Tashiro et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The p53-induced GeneEi24Is an Essential Component of the Basal Autophagy Pathway

(2012) Yan G. Zhao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD

(2010) Emilie Tresse et al.   Autophagy

C. elegans Screen Identifies Autophagy Genes Specific to Multicellular Organisms

(2010) Ye Tian et al.   CELL

Autophagy is essential for mouse sense of balance

(2010) Guillermo Mariño et al.   JOURNAL OF CLINICAL INVESTIGATION

Autophagy in mammalian development and differentiation

(2010) Noboru Mizushima et al.   NATURE CELL BIOLOGY

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Vesicular trafficking and autophagosome formation

(2009) A Longatti et al.   CELL DEATH AND DIFFERENTIATION

Neural-specific Deletion of FIP200 Leads to Cerebellar Degeneration Caused by Increased Neuronal Death and Axon Degeneration

(2009) Chun-Chi Liang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

(2009) Jeong-Sun Ju et al.   JOURNAL OF CELL BIOLOGY

Dynamics and diversity in autophagy mechanisms: lessons from yeast

(2009) Hitoshi Nakatogawa et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

A key role for autophagy and the autophagy gene Atg16l1 in mouse and human intestinal Paneth cells

(2008) Ken Cadwell et al.   NATURE