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Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Enza Maria Valente
Jennifer L Silhavy
Joseph G Gleeson
Research07 May 2006
Nature Genetics

Volume: 38, P: 623-625
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Lorena Travaglini
Francesco Brancati
Enza Maria Valente
Research06 Feb 2013
European Journal of Human Genetics

Volume: 21, P: 1074-1078
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Joseph Gleeson and colleagues show that mutations in INPP5E, encoding the enzyme inositol polyphosphate-5- phosphatase E, cause Joubert syndrome. Functional studies suggest that the mutations promote premature destabilization of cilia in response to stimulation.

Stephanie L Bielas
Jennifer L Silhavy
Joseph G Gleeson
Research09 Aug 2009
Nature Genetics

Volume: 41, P: 1032-1036
Impaired Wnt–β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy

Canonical Wnt signaling is known to be crucial in embryonic organ development. Joseph Gleeson and his colleagues now report that it is also important in the adult homeostasis of the kidney, especially after injury, and that disruption of this signaling pathway results in cystic kidney disease.

Madeline A Lancaster
Carrie M Louie
Joseph G Gleeson
Research30 Aug 2009
Nature Medicine

Volume: 15, P: 1046-1054
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Biallelic truncating mutations in CTNNA2, encoding αN-catenin, cause a new pachygyria syndrome associated with actin regulation and ARP2 and ARP3 repression in neurons.

Ashleigh E. Schaffer
Martin W. Breuss
Joseph G. Gleeson
Research16 Jul 2018
Nature Genetics

Volume: 50, P: 1093-1101
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

Joubert syndrome is a developmental disease affecting multiple parts of the body, including the cerebellum in the brain. Now, Joseph Gleeson and his colleagues show that mouse models of Joubert syndrome show deficient Wnt-dependent cerebellar proliferation and midline fusion and that these phenotypes can be rescued by lithium, a Wnt agonist.

Madeline A Lancaster
Dipika J Gopal
Joseph G Gleeson
Research29 May 2011
Nature Medicine

Volume: 17, P: 726-731
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

Joseph Gleeson and colleagues report exome sequencing of 20 individuals with hemimegalencephaly (HME), identifying de novo somatic mutations in the PIK3CA, AKT3 and MTOR genes.

Jeong Ho Lee
My Huynh
Joseph G Gleeson
Research24 Jun 2012
Nature Genetics

Volume: 44, P: 941-945
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Joseph Gleeson and colleagues report that biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy marked by lysosome-autophagosome dysfunction. Their findings suggest a role for SNX14 in mediating lysosome-autophagosome fusion.

Naiara Akizu
Vincent Cantagrel
Joseph G Gleeson
Research06 Apr 2015
Nature Genetics

Volume: 47, P: 528-534
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Joseph Gleeson and colleagues identify CEP41 mutations as a cause of Joubert syndrome. Their functional studies suggest that CEP41 regulates ciliary entry of TTLL6, an enzyme required for tubulin glutamylation at the cilium.

Ji Eun Lee
Jennifer L Silhavy
Joseph G Gleeson
Research15 Jan 2012
Nature Genetics

Volume: 44, P: 193-199
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Joseph Gleeson and colleagues report that mutations in TMEM216 cause Joubert, Meckel and related syndromes. They further show that TMEM216 localizes to the base of cilia and that its loss leads to defects in ciliogenesis and centrosome docking.

Enza Maria Valente
Clare V Logan
Joseph G Gleeson
Research30 May 2010
Nature Genetics

Volume: 42, P: 619-625
Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Jens Lykke-Andersen, Frank Baas, Joseph Gleeson and colleagues report that mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia type 7. They further show that these mutations result in the accumulation of incompletely processed small nuclear RNAs, leading to severe, early-onset neurodegeneration.

Rea M Lardelli
Ashleigh E Schaffer
Joseph G Gleeson
Research16 Jan 2017
Nature Genetics

Volume: 49, P: 457-464

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Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Impaired Wnt–β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

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

Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

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