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Last update 08 May 2025

ATXN7

Last update 08 May 2025

Basic Info

Synonyms

ADCAII, ataxin 7, Ataxin-7

+ [5]

Introduction

Acts as a 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).

Drugs associated with ATXN7

Ataxin-7 ASOs(Ionis Pharmaceuticals)

Target

ATXN7

Mechanism

ATXN7 gene modulators

Active Org.

Ionis Pharmaceuticals, Inc.

Originator Org.

Ionis Pharmaceuticals, Inc.

Active Indication

Spinocerebellar Ataxias

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

ATAXIN-7 Targeted ASO(Ionis)

Target

ATXN7

Mechanism-

Active Org.-

Originator Org.

Duke University [+1]

Active Indication-

Inactive Indication

Ataxia

Drug Highest PhasePending

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

SRT-419

Target

ATXN7

Mechanism

ATXN7 gene modulators

Active Org.-

Originator Org.

Smart Therapeutics, Inc.

Active Indication-

Inactive Indication

Spinocerebellar Ataxias

Drug Highest PhasePending

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with ATXN7

100 Translational Medicine associated with ATXN7

0 Patents (Medical) associated with ATXN7

379

Literatures (Medical) associated with ATXN7

01 Apr 2025·Molecular Biotechnology

YTHDC1-Mediated lncRNA MSC-AS1 m6A Modification Potentiates Laryngeal Squamous Cell Carcinoma Development via Repressing ATXN7 Transcription

Article

Author: Zhang, Shu ; Wu, Qun ; Dong, Weijiang ; Cheng, Wei ; Kou, Bo

Laryngeal squamous cell carcinoma (LSCC) has the highest mortality rate among head and neck squamous cell carcinoma. This study was designed to investigate the biological effect of long noncoding RNA (lncRNA) MSC antisense RNA 1 (MSC-AS1) on LSCC development and the underlying mechanism. The expression and prognostic value of lncRNAs in head and neck squamous cell carcinoma were predicted in the bioinformatics tools. The overexpression of MSC-AS1 in LSCC patients predicted a poor prognosis. Depletion of MSC-AS1 using shRNA repressed the malignant phenotype of AMC-HN-8 and TU-177 cells. MSC-AS1, mainly localized in the nucleus, interacted closely with the transcription factor CCCTC-binding factor (CTCF). CTCF played anti-tumor effects in vitro and in vivo. Ataxin-7 (ATXN7) was predicted to be a downstream target of CTCF, whose expression was negatively controlled by MSC-AS1. MSC-AS1 was found to block the expression of CTCF, thereby repressing ATXN7. Finally, MSC-AS1 overexpression in LSCC was governed by YTH domain-containing protein 1 (YTHDC1)-mediated m6A modification. In summary, our research identified the YTHDC1/MSC-AS1/CTCF/ATXN7 axis in LSCC development, which indicated that MSC-AS1 is an attractive biomarker in the LSCC treatment.

01 Jan 2025·European Journal of Neurology

Substantia nigra degeneration in spinocerebellar ataxia 2 and 7 using neuromelanin‐sensitive imaging

Article

Author: Dagher, Alain ; Lehéricy, Stéphane ; Gaurav, Rahul ; Sayah, Sabrina ; Biondetti, Emma ; Durr, Alexandra ; Hilab, Rania ; Chougar, Lydia ; Coarelli, Giulia ; Lejeune, François‐Xavier ; Ziegner, Pia

AbstractObjectiveSpinocerebellar ataxias (SCA) are neurodegenerative diseases with widespread lesions across the central nervous system. Ataxia and spasticity are usually predominant, but patients may also present with parkinsonism. We aimed to characterize substantia nigra pars compacta (SNc) degeneration in SCA2 and 7 using neuromelanin‐sensitive imaging.MethodsAtaxic and preataxic expansion carriers with SCA2 (n=15) and SCA7 (n=15) and healthy controls (n=10) were prospectively recruited. Volume and signal‐to‐noise ratio (SNR) values of the SNc were extracted from neuromelanin‐sensitive images. ROC curves were used to determine the metrics that best differentiated SCA participants. Correlations between imaging measurements, clinical variables, and plasma neurofilaments light chain (NfL) levels were investigated.ResultsSCA2 participants had lower SNR values in the SNc than controls (110.2 ± 1.3 versus 113.2 ± 1.4; p < 0.001) and those with SCA7 (112.5 ± 2.1; p < 0.01). SNR in SCA7 participants and controls did not differ. In ataxic patients, SNc volumes were lower in SCA2 (0.13 ± 0.04; p = 0.06) and SCA7 (0.10 ± 0.03, p = 0.02) patients compared to controls (0.17 ± 0.04). Signal decrease was detected at the preataxic stage in SCA2, but not in SCA7. SCA2 participants showed prominent involvement of the associative and limbic nigral territories. SNR discriminated ataxic and preataxic SCA2 participants from controls (AUC ≥0.94). SNc volume differentiated ataxic SCA7 participants from controls (AUC = 1), but not preataxic ones. In SCA7, correlations were observed between SNc volume and time to onset, CAG repeats, clinical severity scores, and NfL.ConclusionsNeuromelanin‐sensitive imaging provides biomarkers of nigral degeneration in SCAs, detectable from the preataxic stage in SCA2, which could potentially serve as outcome measures in clinical trials.

01 Dec 2024·Journal of the Neurological Sciences

Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithms

Article

Author: Dicaire, Marie-Jose ; Zuchner, Stephan ; Anagnostou, Evangelos ; Danzi, Matt C ; Rentzos, Michail ; Kontogeorgiou, Zoi ; Pellerin, David ; Brais, Bernard ; Houlden, Henry ; Stamelou, Maria ; Iruzubieta, Pablo ; Mitrousias, Alexandros ; Koniari, Chrysoula ; Kartanou, Chrisoula ; Athanassopoulos, Konstantinos ; Ragazos, Nikolaos ; Danzi, Matt C. ; Karadima, Georgia ; Koutsis, Georgios ; Panas, Marios ; Stefanis, Leonidas

OBJECTIVELate-onset cerebellar ataxia (LOCA) is a slowly progressive cerebellar disorder with symptom onset ≥30years of age. Intronic tandem repeat expansions (TREs) in RFC1 and FGF14 have recently emerged as common causes of LOCA. The relative contribution of classic vs. newly discovered TREs has not been systematically investigated in LOCA cohorts.METHODSOver 28 years, 206 consecutive Greek LOCA index patients were referred for genetic testing and, based on clinical data and inheritance pattern, screened for FRDA, SCA1,2,3,6,7, FXTAS, CANVAS and SCA27B.RESULTSA genetic diagnosis was reached in 62 of 206 cases (30.1 %). Mean age was 60.1 ± 11.2 (35-87) years and mean age at onset (AAO) 52.5 ± 11.4 (30-80) years. SCA27B accounted for 9.7 % of LOCA cases, CANVAS for 7.8 % and FRDA for 4.4 %. The overall frequency of SCA1, SCA2 and SCA7 was 6.8 %. No cases of SCA3 and SCA6 were identified. FXTAS contributed 1.5 % of cases. In sporadic cases, the diagnostic yield was 22.8 % (34 of 149; SCA27B: 8.7 %, CANVAS: 8.1 %, FRDA: 2.7 %, SCA2: 1.3 %, FXTAS: 1.3 % and SCA7: 0.7 %). In familial cases, the diagnostic yield was 49.1 % (28 of 57). Two cases with CANVAS had pseudodominant inheritance. Patients with SCA27B, CANVAS and FXTAS had mean AAO > 50 years, whereas patients with FRDA, SCA1, SCA2 and SCA7 had mean AAO < 50 years.CONCLUSIONRecently-discovered TREs causing SCA27B and CANVAS represent the commonest known genetic causes of LOCA. Prioritizing testing for FGF14 and RFC1 expansions in the diagnostic algorithm of LOCA is recommended.

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ATXN7

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