A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

(2016) Meriel McEntagart et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

(2016) Sylvie Gerber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Climbing fibers in spinocerebellar ataxia: A mechanism for the loss of motor control

(2016) C.J.L.M. Smeets et al.   NEUROBIOLOGY OF DISEASE

Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias

(2016) Masayoshi Tada et al.   NEUROCHEMISTRY INTERNATIONAL

De novopoint mutations in patients diagnosed with ataxic cerebral palsy

(2015) Ricardo Parolin Schnekenberg et al.   BRAIN

Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene

(2015) Masayuki Sasaki et al.   JOURNAL OF NEUROLOGY

Gating machinery of InsP3R channels revealed by electron cryomicroscopy

(2015) Guizhen Fan et al.   NATURE

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

(2014) Tahir Naeem Khan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Abolished InsP3R2 function inhibits sweat secretion in both humans and mice

(2014) Joakim Klar et al.   JOURNAL OF CLINICAL INVESTIGATION

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

mCSM: predicting the effects of mutations in proteins using graph-based signatures

(2013) Douglas E. V. Pires et al.   BIOINFORMATICS

Type 1 Inositol Trisphosphate Receptor Regulates Cerebellar Circuits by Maintaining the Spine Morphology of Purkinje Cells in Adult Mice

(2013) T. Sugawara et al.   JOURNAL OF NEUROSCIENCE

IP3R1 deficiency in the cerebellum/brainstem causes basal ganglia-independent dystonia by triggering tonic Purkinje cell firings in mice

(2013) Chihiro Hisatsune et al.   Frontiers in Neural Circuits

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

(2012) Lijia Huang et al.   Orphanet Journal of Rare Diseases

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features

(2011) M. Synofzik et al.   JOURNAL OF MEDICAL GENETICS

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

(2010) Alexandra Durr   LANCET NEUROLOGY

An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description

(2010) Marianne J.U. Novak et al.   MOVEMENT DISORDERS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families

(2008) K. Hara et al.   NEUROLOGY