更新于：2024-11-01

ATXN7

更新于：2024-11-01

基本信息

别名

ADCAII、ataxin 7、Ataxin-7

+ [5]

简介

Acts as component of the STAGA transcription coactivator-HAT complex (PubMed:15932940, PubMed:18206972). Mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation (PubMed:15932940, PubMed:18206972). Necessary for microtubule cytoskeleton stabilization (PubMed:22100762).

关联

项与 ATXN7 相关的药物

Ataxin-7 ASOs(Ionis Pharmaceuticals)

靶点

ATXN7

作用机制

ATXN7基因调节剂

在研机构

Ionis Pharmaceuticals, Inc.

原研机构

Ionis Pharmaceuticals, Inc.

在研适应症

脊髓小脑性共济失调

非在研适应症-

最高研发阶段临床前

首次获批国家/地区-

首次获批日期1800-01-20

SRT-419

靶点

ATXN7

作用机制

ATXN7基因调节剂

在研机构-

原研机构

Smart Therapeutics, Inc.

在研适应症-

非在研适应症

脊髓小脑性共济失调

最高研发阶段无进展

首次获批国家/地区-

首次获批日期1800-01-20

ATAXIN-7 Targeted ASO(Ionis)

靶点

ATXN7

作用机制

ATXN7基因调节剂

在研机构-

原研机构

Duke University [+1]

在研适应症-

非在研适应症

共济失调

最高研发阶段无进展

首次获批国家/地区-

首次获批日期1800-01-20

100 项与 ATXN7 相关的临床结果

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100 项与 ATXN7 相关的转化医学

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0 项与 ATXN7 相关的专利（医药）

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371

项与 ATXN7 相关的文献（医药）

2024-10-01·Developmental & Comparative Immunology

Analyses of the Mx family members in lumpfish: Molecular characterization, phylogeny, and gene expression analyses

Article

作者: Haugland, Gyri Teien ; Rao, Shreesha Sadashiva ; Fond, Amanda Kästel Sandal ; Skinnemoen, Linda

Members of the myxovirus resistance (Mx) protein family play an essential role in antiviral immunity. They are Dynamin-like GTPases, induced by interferons. In the current study, we have characterized two predicted MX genes (MX1 and MX2) from lumpfish (Cyclopterus lumpus L.), having 12 and 13 exons, respectively. Mx2 has two isoforms (Mx2-X1 and Mx2-X2) which differ in exon 1. The lumpfish Mx proteins contain an N-terminal Dynamin-like GTPase domain, the middle domain (MD) and GTPase effector domain (GED) characteristic for Mx proteins. Phylogenetic analyses grouped all the lumpfish Mx sequences in group 1, and synteny analyses showed that both genes were localized at chromosome 5 in proximity to the genes Tohc7, Atxn7 and Psmd6. In vitro stimulation experiment showed that both MX1 and MX2-X2 were highly upregulated upon exposure to poly(I:C), but not bacteria, 24 h post exposure, indicating their role in antiviral immunity.

2024-09-10·Neurology

Longitudinal Changes of Clinical, Imaging, and Fluid Biomarkers in Preataxic and Early Ataxic Spinocerebellar Ataxia Type 2 and 7 Carriers

Article

作者: Kacher, Radhia ; Dorgham, Karim ; Welter, Marie-Laure ; Lane, Roger ; Chupin, Marie ; Brice, Alexis ; Cunha, Paulina ; Hilab, Rania ; Nassisi, Marco ; Hurmic, Hortense ; Audo, Isabelle ; Pouget, Pierre ; Lamy, Jean-Charles ; Sayah, Sabrina ; Durr, Alexandra ; Mangin, Jean-François ; Gaymard, Bertrand ; Fischer, Clara ; Daye, Pierre ; Lamazière, Antonin ; Tezenas du Montcel, Sophie ; Gatignol, Peggy ; Dubec-Fleury, Charlotte ; Petit, Emilien ; Daghsen, Lina ; Coarelli, Giulia

BACKGROUND AND OBJECTIVESBrain MRI abnormalities and increases in neurofilament light chain (NfL) have mostly been observed in cross-sectional studies before ataxia onset in polyglutamine spinocerebellar ataxias. Our study aimed to identify longitudinal changes in biological, clinical, and/or imaging biomarkers in spinocerebellar ataxia (SCA) 2 and SCA7 carriers over 1 year.METHODSWe studied SCA2 and SCA7 carriers and controls (expansion-negative relatives) at the Paris Brain Institute. Inclusion criteria included Scale for the Assessment and Rating of Ataxia (SARA) scores between 0 and 15. Assessments at baseline, 6 months, and 12 months comprised neurologic, quality of life, orofacial motor, neuropsychological, and ophthalmologic examinations, along with gait and oculomotor recordings, brain MRI, CSF, and blood sampling. The primary outcome was the longitudinal change in these assessments over 1 year.RESULTSWe included 15 SCA2 carriers, 15 SCA7 carriers, and 10 controls between May 2020 and April 2021. At baseline, the ages were similar (41 [37, 46] for SCA2, 38 [28.5, 39.8] for SCA7, and 39.5 [31, 54.5] for controls, p = 0.78), as well the sex (p = 0.61); SARA scores were low but different (4 [1.25, 6.5] in SCA2, 2 [0, 11.5] in SCA7, and 0 in controls, p < 0.01). Pons and medulla volumes were smaller in SCAs (p < 0.05) and cerebellum volume only in SCA2 (p = 0.01). Plasma NfL levels were higher in SCA participants (SCA2: 14.2 pg/mL [11.52, 15.89], SCA7: 15.53 [13.27, 23.23]) than in controls (4.88 [3.56, 6.17], p < 0.001). After 1-year follow-up, in SCA2, there was significant pons (-144 ± 60 mm³) and cerebellum (-1,508 ± 580 mm³) volume loss and a worsening of gait assessment; in SCA7, SARA score significantly increased (+1.3 ± 0.4) and outer retinal nuclear layer thickness decreased (-15.4 ± 1.6 μm); for both SCA groups, the orofacial motor assessment significantly worsened. For preataxic and early ataxic carriers, the strongest longitudinal deterioration on outcome measures was orofacial motility in SCA2 and retinal thickness in SCA7.DISCUSSIONDespite the limitation of the small sample size, we detected annual changes in preataxic and early ataxic SCA individuals across brain MRI imaging, clinical scores, gait parameters, and retinal thickness. These parameters could serve as potential end points for future therapeutic trials in the preataxic phase.TRIAL REGISTRATION INFORMATIONClinicalTrials.gov NCT04288128.

2024-08-01·Stem Cell Research

Generation of human induced pluripotent stem cell lines (LUMCi051-A,B and LUMCi052-A,B,C) of two patients with Spinocerebellar ataxia type 7

Article

作者: Joosen, Milou E M ; Voesenek, Bas J B ; Pepers, Barry A ; van de Warrenburg, Bart P C ; Buijsen, Ronald A M ; van der Graaf, Linda M ; van Roon-Mom, Willeke M C ; Brosens, Erwin ; Bouwman, Linde F

Spinocerebellar Ataxia Type 7 (SCA7) is an autosomal dominantly inherited disorder, primarily characterized by cerebellar ataxia and visual loss. SCA7 is caused by a CAG repeat expansion in exon 3 of the ATXN7 gene. We generated human induced pluripotent stem cells (hiPSCs) from peripheral blood-derived erythroblasts from two SCA7 patients (LUMCi051-A,B and LUMCi052-A,B,C) using integration-free episomal vectors. All hiPSC clones express pluripotency factors, show a normal karyotype, and can differentiate into the three germ layers. These lines can be used for in vitro disease modeling and therapy testing.