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

A NovelRAB33BMutation in Smith-McCort Dysplasia

(2012) Nina Dupuis et al.   HUMAN MUTATION

Mutation inRAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve–Melchior–Clausen locus

(2012) Muneera J Alshammari et al.   JOURNAL OF MEDICAL GENETICS

Warburg Micro syndrome

(2012) Fatma Dursun et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Sense from nonsense: therapies for premature stop codon diseases

(2012) Laure Bidou et al.   TRENDS IN MOLECULAR MEDICINE

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

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

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Rab3-GAP Controls the Progression of Synaptic Homeostasis at a Late Stage of Vesicle Release

(2011) Martin Müller et al.   NEURON

Role of Rab GTPases in Membrane Traffic and Cell Physiology

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

Rab18 Dynamics in Adipocytes in Relation to Lipogenesis, Lipolysis and Obesity

(2011) Marina R. Pulido et al.   PLoS One

An Integrated Approach to Uncover Drivers of Cancer

(2010) Uri David Akavia et al.   CELL

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

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome

(2010) Guntram Borck et al.   HUMAN GENETICS

Mutant Huntingtin Impairs Post-Golgi Trafficking to Lysosomes by Delocalizing Optineurin/Rab8 Complex from the Golgi Apparatus

(2009) Daniel del Toro et al.   MOLECULAR BIOLOGY OF THE CELL

Rab18 and Rab43 have key roles in ER-Golgi trafficking

(2008) S. Y. Dejgaard et al.   JOURNAL OF CELL SCIENCE

Rab18 Is Reduced in Pituitary Tumors Causing Acromegaly and Its Overexpression Reverts Growth Hormone Hypersecretion

(2008) Rafael Vazquez-Martinez et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation

(2008) A. Battaglia et al.   PEDIATRICS