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6 Possible Causes for Mutation in the STUB1 Gene

  • Gordon Holmes Syndrome

    We identified a homozygous mutation (c.737C T, p.Thr246Met) in STIP1 homology and U-box containing protein 1 (STUB1), the gene that encodes for C-terminus of Hsp70 Interacting[fasebj.org] This consortium has already identified severe loss of function mutations in another E3 ligase, STUB1, which encodes the CHIP protein, in an Asian patient with Gordon Holmes[reproendo.mgh.harvard.edu] […] investigators to explore the genetics of Gordon Holmes syndrome in multiple in vivo models, as well as identifying the upstream regulators and downstream targets of the genes[reproendo.mgh.harvard.edu]

  • Boucher-Neuhauser Syndrome

    […] and phenotypic spectrum associated with a multitude of established axonopathy genes[12], including among many others SYNE1 [13, 14], DYNC1H1 [15], BICD2 [16], STUB1 [17],[cordis.europa.eu] […] captures detailed cross-sectional and longitudinal data on HSP and related disorders in a harmonized and standardized way, we were furthermore able to delineate and broaden the mutational[cordis.europa.eu]

  • Spinocerebellar Ataxia Type 19

    Illarioshkin (Moscow, Russia) 12:00pm-1:30pm Sporadic cerebellar ataxia associated with hypogonadotropic hypogonadism and PNPLA6 gene mutation.[mdsabstracts.org] Seminara (Curitiba, Brazil) 12:00pm-1:30pm STUB1/CHIP mutations cause Gordon Holmes syndrome as part of widespread multisystemic neurodegeneration: Evidence from novel mutations[mdsabstracts.org]

  • Cerebellar Ataxia-Hypogonadism Syndrome

    Additionally, mutations of the STUB1 gene have been determined in GHS patients.[symptoma.com] STUB1 mutations are generally associated with autosomal recessive spinocerebellar ataxia type 16 (SCAR16), but there is considerable phenotypic overlap and GHS has recently[symptoma.com] In this context, mutations in PNPLA6 have been linked to Laurence-Moon syndrome, Oliver-McFarlane syndrome, Boucher-Neuhäuser syndrome, and spastic paraplegia type 39.[symptoma.com]

  • Hereditary Geniospasm

    gene mutation., 60th Annual Meeting of the Japan Society of Human Genetics, Dec. 2015. 9.[pub2.db.tokushima-u.ac.jp] Ryosuke Oki, Antonio Orlacchio, Yuishin Izumi, Yoshihiko Nishida, Katsuhiko Adachi and Ryuji Kaji : Three sibships showing various involuntary movements by a novel homozygous STUB1[pub2.db.tokushima-u.ac.jp]

  • Spastic Paraplegia - Ataxia - Mental Retardation

    […] and phenotypic spectrum associated with a multitude of established axonopathy genes[12], including among many others SYNE1 [13, 14], DYNC1H1 [15], BICD2 [16], STUB1 [17],[cordis.europa.eu] […] captures detailed cross-sectional and longitudinal data on HSP and related disorders in a harmonized and standardized way, we were furthermore able to delineate and broaden the mutational[cordis.europa.eu]

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