Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

Structural insights into the small G-protein Arl13B and implications for Joubert syndrome

(2013) Mandy Miertzschke et al.   BIOCHEMICAL JOURNAL

Arl13b-regulated cilia activities are essential for polarized radial glial scaffold formation

(2013) Holden Higginbotham et al.   NATURE NEUROSCIENCE

Arl13b in Primary Cilia Regulates the Migration and Placement of Interneurons in the Developing Cerebral Cortex

(2012) Holden Higginbotham et al.   DEVELOPMENTAL CELL

Investigating Embryonic Expression Patterns and Evolution of AHI1 and CEP290 Genes, Implicated in Joubert Syndrome

(2012) Yu-Zhu Cheng et al.   PLoS One

Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome

(2012) A. Aguilar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Arl13b regulates ciliogenesis and the dynamic localization of Shh signaling proteins

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

High-fat feeding promotes obesity via insulin receptor/PI3K-dependent inhibition of SF-1 VMH neurons

(2011) Tim Klöckener et al.   NATURE NEUROSCIENCE

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

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

(2010) Enza Maria Valente et al.   NATURE GENETICS

Hypothalam1c Lesions And Adiposity In The Rat

(2010) A. W. Hetherington et al.   NUTRITION REVIEWS

CC2D2Amutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

(2009) Soumaya Mougou-Zerelli et al.   HUMAN MUTATION

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

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

Cerebellar development and disease

(2008) Kathleen J Millen et al.   CURRENT OPINION IN NEUROBIOLOGY

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

(2008) N. Spassky et al.   DEVELOPMENTAL BIOLOGY

The SWISS-MODEL Repository and associated resources

(2008) F. Kiefer et al.   NUCLEIC ACIDS RESEARCH