Rab and Arf Proteins in Genetic Diseases

Bardet–Biedl syndrome

(2012) Elizabeth Forsythe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Rab8 Guanine Nucleotide Exchange Factor-Effector Interaction Network Regulates Primary Ciliogenesis

(2012) Shanshan Feng et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

SUMOylation of the small GTPase ARL-13 promotes ciliary targeting of sensory receptors

(2012) Yujie Li et al.   JOURNAL OF CELL BIOLOGY

CHM/REP1 cDNA delivery by lentiviral vectors provides functional expression of the transgene in the retinal pigment epithelium of choroideremia mice

(2012) Tanya Tolmachova et al.   JOURNAL OF GENE MEDICINE

Arf6-GEF BRAG1 Regulates JNK-Mediated Synaptic Removal of GluA1-Containing AMPA Receptors: A New Mechanism for Nonsyndromic X-Linked Mental Disorder

(2012) K. R. Myers et al.   JOURNAL OF NEUROSCIENCE

Arl13b regulates endocytic recycling traffic

(2012) D. C. Barral et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

Expression of Sar1b Enhances Chylomicron Assembly and Key Components of the Coat Protein Complex II System Driving Vesicle Budding

(2011) Emile Levy et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

The gunmetal mouse reveals Rab geranylgeranyl transferase to be the major molecular target of phosphonocarboxylate analogues of bisphosphonates

(2011) Fraser P. Coxon et al.   BONE

A Role for Myosin Va in Cerebellar Plasticity and Motor Learning: A Possible Mechanism Underlying Neurological Disorder in Myosin Va Disease

(2011) M. Miyata et al.   JOURNAL OF NEUROSCIENCE

Arl13b regulates ciliogenesis and the dynamic localization of Shh signaling proteins

(2011) Christine E. Larkins et al.   MOLECULAR BIOLOGY OF THE CELL

ARF family G proteins and their regulators: roles in membrane transport, development and disease

(2011) Julie G. Donaldson et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Ciliogenesis: building the cell's antenna

(2011) Hiroaki Ishikawa et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease)

(2011) Amandine Georges et al.   Orphanet Journal of Rare Diseases

Cellular and clinical report of new Griscelli syndrome type III cases

(2011) Wendy Westbroek et al.   Pigment Cell & Melanoma Research

CMT2B-associated Rab7 mutants inhibit neurite outgrowth

(2010) Laura Cogli et al.   ACTA NEUROPATHOLOGICA

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

(2010) Maila Giannandrea et al.   AMERICAN JOURNAL OF HUMAN GENETICS

RAB23mutation in a large family from Comoros Islands with Carpenter syndrome

(2010) Jean-Luc Alessandri et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Trafficking to the Ciliary Membrane: How to Get Across the Periciliary Diffusion Barrier?

(2010) Maxence V. Nachury et al.   Annual Review of Cell and Developmental Biology

The Conserved Bardet-Biedl Syndrome Proteins Assemble a Coat that Traffics Membrane Proteins to Cilia

(2010) Hua Jin et al.   CELL

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome

(2010) Guntram Borck et al.   HUMAN GENETICS

The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium

(2010) R. Jane Evans et al.   HUMAN MOLECULAR GENETICS

Early embryonic lethality in gene trap mice with disruption of the Arfgef2 gene

(2010) Pawel Grzmil et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

The small GTPases ARL-13 and ARL-3 coordinate intraflagellar transport and ciliogenesis

(2010) Yujie Li et al.   JOURNAL OF CELL BIOLOGY

Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport inCaenorhabditis elegans

(2010) Sebiha Cevik et al.   JOURNAL OF CELL BIOLOGY

COPII-mediated vesicle formation at a glance

(2010) D. Jensen et al.   JOURNAL OF CELL SCIENCE

The ciliary pocket: an endocytic membrane domain at the base of primary and motile cilia

(2010) A. Molla-Herman et al.   JOURNAL OF CELL SCIENCE

Differential role of Rab proteins in ciliary trafficking: Rab23 regulates Smoothened levels

(2010) C. Boehlke et al.   JOURNAL OF CELL SCIENCE

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

(2010) Cheryl Shoubridge et al.   NATURE GENETICS

AMPA Receptor Signaling through BRAG2 and Arf6 Critical for Long-Term Synaptic Depression

(2010) Ralf Scholz et al.   NEURON

Coordination of Rab8 and Rab11 in primary ciliogenesis

(2010) A. Knodler et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rab GTPases as coordinators of vesicle traffic

(2009) Harald Stenmark   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Griscelli syndrome: a model system to study vesicular trafficking

(2009) Mireille Van Gele et al.   Pigment Cell & Melanoma Research

Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease

(2009) Dan Doherty   Seminars in Pediatric Neurology

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

(2008) Vincent Cantagrel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Mutation in Rab38 Small GTPase Causes Abnormal Lung Surfactant Homeostasis and Aberrant Alveolar Structure in Mice

(2008) Kazuhiro Osanai et al.   AMERICAN JOURNAL OF PATHOLOGY

Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool

(2008) N. Spassky et al.   DEVELOPMENTAL BIOLOGY

A BBSome Subunit Links Ciliogenesis, Microtubule Stability, and Acetylation

(2008) Alexander V. Loktev et al.   DEVELOPMENTAL CELL

Assembly of primary cilia

(2008) Lotte B. Pedersen et al.   DEVELOPMENTAL DYNAMICS

XLMR genes: update 2007

(2008) Pietro Chiurazzi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training

(2008) Veronica Bianchi et al.   HUMAN MOLECULAR GENETICS

Rab3GEP Is the Non-redundant Guanine Nucleotide Exchange Factor for Rab27a in Melanocytes

(2008) Ana C. Figueiredo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Rab18 and Rab43 have key roles in ER-Golgi trafficking

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

The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3

(2008) Stefan Veltel et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Coordination of COPII vesicle trafficking by Sec23

(2008) J. Christopher Fromme et al.   TRENDS IN CELL BIOLOGY

Anderson or chylomicron retention disease: Molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein

(2007) Mathilde Charcosset et al.   MOLECULAR GENETICS AND METABOLISM