A HomozygousRAB3GAP1:c.743delCMutation in Rottweilers with Neuronal Vacuolation and Spinocerebellar Degeneration

A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs

(2016) Tendai Mhlanga-Mutangadura et al.   NEUROBIOLOGY OF DISEASE

A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1)

(2015) Michaela Wiedmer et al.   G3-Genes Genomes Genetics

Regulators of Autophagosome Formation in Drosophila Muscles

(2015) Jonathan Zirin et al.   PLoS Genetics

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene

(2015) G Shelton et al.   Skeletal Muscle

Rab proteins: The key regulators of intracellular vesicle transport

(2014) Tanmay Bhuin et al.   EXPERIMENTAL CELL RESEARCH

Rab18 and a Rab18 GEF complex are required for normal ER structure

(2014) Andreas Gerondopoulos et al.   JOURNAL OF CELL BIOLOGY

DNA Testing in Neurologic Diseases

(2014) D.P. O'Brien et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

Breed Distribution ofSOD1Alleles Previously Associated with Canine Degenerative Myelopathy

(2014) R. Zeng et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

(2013) Ryan P. Liegel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation Spectrum inRAB3GAP1,RAB3GAP2, andRAB18and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

(2013) Mark T. Handley et al.   HUMAN MUTATION

RML prions act through Mahogunin and Attractin-independent pathways

(2013) Teresa M Gunn et al.   Prion

Sporadic Creutzfeldt-Jakob disease subtype-specific alterations of the brain proteome: Impact on Rab3a recycling

(2012) Joanna Gawinecka et al.   PROTEOMICS

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

(2011) Danai Bem et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Role of Rab GTPases in Membrane Traffic and Cell Physiology

(2011) Alex H. Hutagalung et al.   PHYSIOLOGICAL REVIEWS

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

(2010) Deborah J Morris-Rosendahl et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Encephalomyelopathy and Polyneuropathy Associated with Neuronal Vacuolation in Two Boxer Littermates

(2009) D. A. Geiger et al.   VETERINARY PATHOLOGY