Bardet-Biedl syndrome: Is it only cilia dysfunction?

Metabolic Regulation and Energy Homeostasis through the Primary Cilium

(2015) Edwin C. Oh et al.   Cell Metabolism

Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea

(2015) H. L. May-Simera et al.   DEVELOPMENT

Leptin Elongates Hypothalamic Neuronal Cilia via Transcriptional Regulation and Actin Destabilization

(2015) Gil Myoung Kang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors

(2015) Qingwen Xu et al.   Scientific Reports

Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery

(2015) Marine Barbelanne et al.   HUMAN MOLECULAR GENETICS

Identification of G Protein-Coupled Receptors (GPCRs) in Primary Cilia and Their Possible Involvement in Body Weight Control

(2015) Yoshihiro Omori et al.   PLoS One

BBS4 directly affects proliferation and differentiation of adipocytes

(2014) Olga Aksanov et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

The Intraflagellar Transport Protein IFT27 Promotes BBSome Exit from Cilia through the GTPase ARL6/BBS3

(2014) Gerald M. Liew et al.   DEVELOPMENTAL CELL

IFT27 Links the BBSome to IFT for Maintenance of the Ciliary Signaling Compartment

(2014) Thibaut Eguether et al.   DEVELOPMENTAL CELL

Dissecting Intraflagellar Transport, One Molecule at a Time

(2014) Erica E. Davis et al.   DEVELOPMENTAL CELL

Bardet–Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein

(2014) Xuefeng Su et al.   HUMAN MOLECULAR GENETICS

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

(2014) M. A. Aldahmesh et al.   HUMAN MOLECULAR GENETICS

Interaction with the Bardet-Biedl Gene Product TRIM32/BBS11 Modifies the Half-life and Localization of Glis2/NPHP7

(2014) Haribaskar Ramachandran et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Basal body proteins regulate Notch signaling through endosomal trafficking

(2014) C. C. Leitch et al.   JOURNAL OF CELL SCIENCE

Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators

(2014) Yangfan P. Liu et al.   JOURNAL OF CLINICAL INVESTIGATION

Leptin-promoted cilia assembly is critical for normal energy balance

(2014) Yu Mi Han et al.   JOURNAL OF CLINICAL INVESTIGATION

Syndrome de Bardet-Biedl : cils et obésité

(2014) Kirsley Chennen et al.   M S-MEDECINE SCIENCES

Structural basis for membrane targeting of the BBSome by ARL6

(2014) André Mourão et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

SDCCAG8 Regulates Pericentriolar Material Recruitment and Neuronal Migration in the Developing Cortex

(2014) Ryan Insolera et al.   NEURON

Influences of Primary Cilia on Cortical Morphogenesis and Neuronal Subtype Maturation

(2014) Matthew R. Sarkisian et al.   NEUROSCIENTIST

BBS4 Is Necessary for Ciliary Localization of TrkB Receptor and Activation by BDNF

(2014) Carmen C. Leitch et al.   PLoS One

Direct evidence for BBSome-associated intraflagellar transport reveals distinct properties of native mammalian cilia

(2014) Corey L. Williams et al.   Nature Communications

Ciliary dysfunction impairs beta-cell insulin secretion and promotes development of type 2 diabetes in rodents

(2014) Jantje M. Gerdes et al.   Nature Communications

The primary cilium

(2014) Andrew M Fry et al.   Organogenesis

The Centriolar Satellite Protein AZI1 Interacts with BBS4 and Regulates Ciliary Trafficking of the BBSome

(2014) Xitiz Chamling et al.   PLoS Genetics

Hedgehog signaling from the primary cilium to the nucleus: an emerging picture of ciliary localization, trafficking and transduction

(2013) Yoko Inès Nozawa et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

The Bardet–Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex

(2013) Magdalena Cardenas-Rodriguez et al.   HUMAN MOLECULAR GENETICS

Bardet–Biedl syndrome proteins control the cilia length through regulation of actin polymerization

(2013) Victor Hernandez-Hernandez et al.   HUMAN MOLECULAR GENETICS

BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking

(2013) Q. Zhang et al.   JOURNAL OF CELL SCIENCE

Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunitBBIP1(BBS18)

(2013) Sophie Scheidecker et al.   JOURNAL OF MEDICAL GENETICS

The novel centriolar satellite protein SSX2IP targets Cep290 to the ciliary transition zone

(2013) Maren Klinger et al.   MOLECULAR BIOLOGY OF THE CELL

Neuronal Primary Cilia: An Underappreciated Signaling and Sensory Organelle in the Brain

(2013) Jill A Green et al.   NEUROPSYCHOPHARMACOLOGY

Leptin resistance is a secondary consequence of the obesity in ciliopathy mutant mice

(2013) N. F. Berbari et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neuropeptide Y Family Receptors Traffic via the Bardet-Biedl Syndrome Pathway to Signal in Neuronal Primary Cilia

(2013) Alexander V. Loktev et al.   Cell Reports

BBS-Induced Ciliary Defect Enhances Adipogenesis, Causing Paradoxical Higher-Insulin Sensitivity, Glucose Usage, and Decreased Inflammatory Response

(2012) Vincent Marion et al.   Cell Metabolism

The ciliary pocket

(2012) Alexandre Benmerah   CURRENT OPINION IN CELL BIOLOGY

The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization

(2012) Jeremy F Reiter et al.   EMBO REPORTS

Bardet–Biedl syndrome

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

Acrocallosal syndrome: Identification of a novel KIF7 mutation and evidence for oligogenic inheritance

(2012) Diana M. Walsh et al.   European Journal of Medical Genetics

Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet–Biedl syndrome

(2012) Magdalena Cardenas-Rodriguez et al.   HUMAN GENETICS

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

(2012) Qihong Zhang et al.   HUMAN MOLECULAR GENETICS

Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome

(2012) Qihong Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation

(2012) C. Gascue et al.   JOURNAL OF CELL SCIENCE

Exome sequencing identifies mutations inLZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly

(2012) Vincent Marion et al.   JOURNAL OF MEDICAL GENETICS

The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium

(2012) Timothy R. Stowe et al.   MOLECULAR BIOLOGY OF THE CELL

Regulating intraflagellar transport

(2012) Lotte B. Pedersen et al.   NATURE CELL BIOLOGY

The BBSome controls IFT assembly and turnaround in cilia

(2012) Qing Wei et al.   NATURE CELL BIOLOGY

A role for primary cilia in glutamatergic synaptic integration of adult-born neurons

(2012) Natsuko Kumamoto et al.   NATURE NEUROSCIENCE

A New Cre Driver Mouse Line, Tcf21/Pod1-Cre, Targets Metanephric Mesenchyme

(2012) Yoshiro Maezawa et al.   PLoS One

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

(2011) Katharina Hopp et al.   HUMAN MOLECULAR GENETICS

Polycystin-2 takes different routes to the somatic and ciliary plasma membrane

(2011) Helen Hoffmeister et al.   JOURNAL OF CELL BIOLOGY

Patients with Bardet-Biedl Syndrome Have Hyperleptinemia Suggestive of Leptin Resistance

(2011) Penelope P. Feuillan et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

(2011) Francesc R Garcia-Gonzalo et al.   NATURE GENETICS

Ciliopathies

(2011) Friedhelm Hildebrandt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes

(2011) Q. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Retinal dystrophy in Bardet–Biedl syndrome and related syndromic ciliopathies

(2011) A. Mockel et al.   PROGRESS IN RETINAL AND EYE RESEARCH

A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened

(2011) Seongjin Seo et al.   PLoS Genetics

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

(2010) Hua Jin et al.   CELL

The Role of Primary Cilia in Mesenchymal Stem Cell Differentiation: A Pivotal Switch in Guiding Lineage Commitment

(2010) Padmaja Tummala et al.   Cellular and Molecular Bioengineering

Bardet-Biedl Syndrome: A Study of the Renal and Cardiovascular Phenotypes in a French Cohort

(2010) O. Imhoff et al.   Clinical Journal of the American Society of Nephrology

Knockdown of the Alström syndrome-associated gene Alms1 in 3T3-L1 preadipocytes impairs adipogenesis but has no effect on cell-autonomous insulin action

(2010) I Huang-Doran et al.   INTERNATIONAL JOURNAL OF OBESITY

Bardet-Biedl Syndrome-associated Small GTPase ARL6 (BBS3) Functions at or near the Ciliary Gate and Modulates Wnt Signaling

(2010) Cheryl J. Wiens et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Functional genomic screen for modulators of ciliogenesis and cilium length

(2010) Joon Kim et al.   NATURE

The primary cilium: a signalling centre during vertebrate development

(2010) Sarah C. Goetz et al.   NATURE REVIEWS GENETICS

Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms

(2010) Cecilia Gascue et al.   PEDIATRIC NEPHROLOGY

Kif3a Deficiency Reverses the Skeletal Abnormalities in Pkd1 Deficient Mice by Restoring the Balance Between Osteogenesis and Adipogenesis

(2010) Ni Qiu et al.   PLoS One

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

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

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

(2010) S. Seo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis

(2010) Su Kyoung Kim et al.   SCIENCE

Functional modules, mutational load and human genetic disease

(2010) Norann A. Zaghloul et al.   TRENDS IN GENETICS

Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies

(2009) Magdalena Cardenas-Rodriguez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Polycystins and Primary Cilia: Primers for Cell Cycle Progression

(2009) Jing Zhou   Annual Review of Physiology

The Vertebrate Primary Cilium in Development, Homeostasis, and Disease

(2009) Jantje M. Gerdes et al.   CELL

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

(2009) Seongjin Seo 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

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

(2009) Norann A. Zaghloul et al.   JOURNAL OF CLINICAL INVESTIGATION

Intraflagellar transport is required for polarized recycling of the TCR/CD3 complex to the immune synapse

(2009) Francesca Finetti et al.   NATURE CELL BIOLOGY

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

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

(2009) Vincent Marion et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A BBSome Subunit Links Ciliogenesis, Microtubule Stability, and Acetylation

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

Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning

(2008) Marwan K. Tayeh et al.   HUMAN MOLECULAR GENETICS

Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome

(2008) Kamal Rahmouni et al.   JOURNAL OF CLINICAL INVESTIGATION

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

(2008) Carmen C Leitch et al.   NATURE GENETICS

Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia

(2008) N. F. Berbari et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

(2007) Valeska Frank et al.   HUMAN MUTATION