| | VARIANT: 3708v1 | |
Entry |
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Name |
ITPR1 activating mutation
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Gene |
ITPR1 inositol 1,4,5-trisphosphate receptor type 1 [KO: K04958]
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Organism |
hsa_var Human gene variants (Homo sapiens)
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Variation |
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Variation |
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Network |
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Disease |
H00063 | Spinocerebellar ataxia (SCA) |
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Reference |
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Authors |
Klar J, Ali Z, Farooq M, Khan K, Wikstrom J, Iqbal M, Zulfiqar S, Faryal S, Baig SM, Dahl N |
Title |
A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers. |
Journal |
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Reference |
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Authors |
Zambonin JL, Bellomo A, Ben-Pazi H, Everman DB, Frazer LM, Geraghty MT, Harper AD, Jones JR, Kamien B, Kernohan K, Koenig MK, Lines M, Palmer EE, Richardson R, Segel R, Tarnopolsky M, Vanstone JR, Gibbons M, Collins A, Fogel BL, Dudding-Byth T, Boycott KM |
Title |
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia. |
Journal |
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Reference |
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Authors |
Tada M, Nishizawa M, Onodera O |
Title |
Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias. |
Journal |
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Reference |
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Authors |
Huang L, Chardon JW, Carter MT, Friend KL, Dudding TE, Schwartzentruber J, Zou R, Schofield PW, Douglas S, Bulman DE, Boycott KM |
Title |
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. |
Journal |
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LinkDB |
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