Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

(2010) Christian Gilissen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

(2010) Joanna Walczak-Sztulpa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

(2010) Anneke I. den Hollander et al.   JOURNAL OF CLINICAL INVESTIGATION

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

(2010) Yingrui Li et al.   NATURE GENETICS

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

(2009) Karlien L.M. Coene et al.   AMERICAN JOURNAL OF HUMAN GENETICS

RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis

(2009) Jungyeon Won et al.   HUMAN MOLECULAR GENETICS

TheChlamydomonas reinhardtiiBBSome is an IFT cargo required for export of specific signaling proteins from flagella

(2009) Karl-Ferdinand Lechtreck et al.   JOURNAL OF CELL BIOLOGY

A novel function for the atypical small G protein Rab-like 5 in the assembly of the trypanosome flagellum

(2009) C. Adhiambo et al.   JOURNAL OF CELL SCIENCE

Intraflagellar Transport (IFT) Protein IFT25 Is a Phosphoprotein Component of IFT Complex B and Physically Interacts with IFT27 in Chlamydomonas

(2009) Zhaohui Wang et al.   PLoS One

Characterization of mouse IFT complex B

(2009) John A. Follit et al.   CELL MOTILITY AND THE CYTOSKELETON

Intraflagellar transport and the sensory outer segment of vertebrate photoreceptors

(2008) Christine Insinna et al.   DEVELOPMENTAL DYNAMICS

Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein

(2008) Erwin van Wijk et al.   HUMAN MOLECULAR GENETICS

The intraflagellar transport protein IFT57 is required for cilia maintenance and regulates IFT-particle-kinesin-II dissociation in vertebrate photoreceptors

(2008) B. L. Krock et al.   JOURNAL OF CELL SCIENCE

Prevention of Amino Acid Conversion in SILAC Experiments with Embryonic Stem Cells

(2008) Sean C. Bendall et al.   MOLECULAR & CELLULAR PROTEOMICS

MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification

(2008) Jürgen Cox et al.   NATURE BIOTECHNOLOGY

elipsa is an early determinant of ciliogenesis that links the IFT particle to membrane-associated small GTPase Rab8

(2008) Yoshihiro Omori et al.   NATURE CELL BIOLOGY

Leber congenital amaurosis: Genes, proteins and disease mechanisms

(2008) Anneke I. den Hollander et al.   PROGRESS IN RETINAL AND EYE RESEARCH

An Essential Role for DYF-11/MIP-T3 in Assembling Functional Intraflagellar Transport Complexes

(2008) Chunmei Li et al.   PLoS Genetics

Intraflagellar transport: from molecular characterisation to mechanism

(2007) Oliver et al.   Frontiers in Bioscience-Landmark