Malicdan MC et al. Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes. J Med Genet. 2015;52(12):830-9. PMID: 26386044.
Travaglini L et al. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet. 2013;21(10):1074-8. PMID: 23386033.
Joubert M et al. Familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation. Neurology. 1968;18(3):302-3. PMID: 5690407.
Alkanderi S et al. ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition. Am J Hum Genet. 2018;103(4):612-20. PMID: 30269812.
Doherty D et al. Joubert syndrome: insights into brain development, cilium biology, and complex disease. Semin Pediatr Neurol. 2009;16(3):143-54. PMID: 19778711.
Paprocka J et al. [Joubert syndrome and related disorders]. Neurol Neurochir Pol. 2012;46(4):379-83. PMID: 23023437.
Srivastava S et al. A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies. Hum Mol Genet. 2017;26(23):4657-67. PMID: 28973549.
Avidor-Reiss T et al. Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis. Cell. 2004;117(4):527-39. PMID: 15137945.
Blacque OE et al. Functional genomics of the cilium, a sensory organelle. Curr Biol. 2005;15(10):935-41. PMID: 15916950.
Zhou C et al. Arl2 and Arl3 regulate different microtubule-dependent processes. Mol Biol Cell. 2006;17(5):2476-87. PMID: 16525022.
Gotthardt K et al. A G-protein activation cascade from Arl13B to Arl3 and implications for ciliary targeting of lipidated proteins. ELife. 2015;4. PMID: 26551564.
Praetorius HA et al. The renal cell primary cilium functions as a flow sensor. Current opinion in nephrology and hypertension. 2003;12(5):517-20. PMID: 12920399.
Tucker RW et al. Centriole deciliation associated with the early response of 3T3 cells to growth factors but not to SV40. Cell. 1979;18(4):1065-72. PMID: 229969.
Sewell JL et al. Sequences of the bovine and yeast ADP-ribosylation factor and comparison to other GTP-binding proteins. Proc Natl Acad Sci U S A. 1988;85(13):4620-4. PMID: 3133654.
Clark J et al. Selective amplification of additional members of the ADP-ribosylation factor (ARF) family: cloning of additional human and Drosophila ARF-like genes. Proc Natl Acad Sci U S A. 1993;90(19):8952-6. PMID: 8415637.
Tamkun JW et al. The arflike gene encodes an essential GTP-binding protein in Drosophila. Proc Natl Acad Sci U S A. 1991;88(8):3120-4. PMID: 1901655.