NA06153
DNA from Fibroblast
Description:
MACHADO-JOSEPH DISEASE; MJD
ATAXIN 3; ATXN3
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Class |
Disorders with Trinucleotide Expansions |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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PORTUGUESE
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Family Member
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2
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Relation to Proband
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brother
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
5.88 |
| Passage Frozen |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
ATXN3 |
| Chromosomal Location |
14q24.3-q31 |
| Allelic Variant 1 |
607047.0001; MACHADO-JOSEPH DISEASE |
| Identified Mutation |
(CAG)n EXPANSION; Machado-Joseph disease and spinocerebellar ataxia-3 are caused by expansion of a trinucleotide repeat (CAG)n in the MJD gene. In normal individuals, the gene contains between 13 and 36 repeats, whereas most patients with clinically diagnosed MJD and all of the affected members of a family with clinical and pathological MJD show expansion of the repeat number in the range of 68 to 79 copies. |
| Remarks |
Portuguese; affected father and 2 sibs; SCA Type III (SCA3): slight ataxia, dysarthria, and nystagmus; allele 1 has 23 CAG repeats in the ATXN3 (MJD) gene; allele 2 has 71 CAG repeats |
| Joachimiak P, Ciesiolka A, Kozlowska E, Switonski PM, Figura G, Ciolak A, Adamek G, Surdyka M, Kalinowska-Poska Z, Figiel M, Caron NS, Hayden MR, Fiszer A, Allele-specific quantitation of ATXN3 and HTT transcripts in polyQ disease models BMC biology21:17 2022 |
| PubMed ID: 36726088 |
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| Wrobel L, Hill SM, Djajadikerta A, Fernandez-Estevez M, Karabiyik C, Ashkenazi A, Barratt VJ, Stamatakou E, Gunnarsson A, Rasmusson T, Miele EW, Beaton N, Bruderer R, Feng Y, Reiter L, Castaldi MP, Jarvis R, Tan K, Bürli RW, Rubinsztein DC, Compounds activating VCP D1 ATPase enhance both autophagic and proteasomal neurotoxic protein clearance Nature communications13:4146 2021 |
| PubMed ID: 35842429 |
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| Ciesiolka A, Stroynowska-Czerwinska A, Joachimiak P, Ciolak A, Kozlowska E, Michalak M, Dabrowska M, Olejniczak M, Raczynska KD, Zielinska D, Wozna-Wysocka M, Krzyzosiak WJ, Fiszer A, Artificial miRNAs targeting CAG repeat expansion in ORFs cause rapid deadenylation and translation inhibition of mutant transcripts Cellular and molecular life sciences : CMLS13:4146 2019 |
| PubMed ID: 32696070 |
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| Ciolak A, Krzyzosiak WJ, Kozlowska E, Fiszer A, Generation of human iPS cell line IBCHi002-A from spinocerebellar ataxia type 3/Machado-Joseph disease patient's fibroblasts Stem cell research45:101796 2019 |
| PubMed ID: 32361312 |
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| Kotowska-Zimmer A, Ostrovska Y, Olejniczak M, Universal RNAi Triggers for the Specific Inhibition of Mutant Huntingtin, Atrophin-1, Ataxin-3, and Ataxin-7 Expression Molecular therapy Nucleic acids19:562-571 2019 |
| PubMed ID: 31927329 |
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| Kourkouta E, Weij R, González-Barriga A, Mulder M, Verheul R, Bosgra S, Groenendaal B, Puoliväli J, Toivanen J, van Deutekom JCT, Datson NA, Suppression of Mutant Protein Expression in SCA3 and SCA1 Mice Using a CAG Repeat-Targeting Antisense Oligonucleotide Molecular therapy Nucleic acids17:601-614 2019 |
| PubMed ID: 31394429 |
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| Yamashita H, Tomoshige S, Nomura S, Ohgane K, Hashimoto Y, Ishikawa M, Application of protein knockdown strategy targeting ß-sheet structure to multiple disease-associated polyglutamine proteins Bioorganic & medicinal chemistry28:115175 2019 |
| PubMed ID: 31767406 |
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| Chen ZS1,2, Li L1,2, Peng S1,2, Chen FM3, Zhang Q1,2, An Y1,2, Lin X2, Li W2, Koon AC1,2, Chan TF2,3,4,5, Lau KF2,3,4, Ngo JCK2,3, Wong WT3, Kwan KM3,6,7, Chan HYE8,2,3,4,5., Planar cell polarity gene Fuz triggers apoptosis in neurodegenerative disease models EMBO Reports28:115175 2018 |
| PubMed ID: 30026307 |
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| Lopes SM, Faro R, Lopes MM, Onofre I, Mendonça N, Ribeiro J, Januário C, Nobre RJ, Pereira de Almeida L, Protocol for the Characterization of the Cytosine-Adenine-Guanine Tract and Flanking Polymorphisms in Machado-Joseph Disease: Impact on Diagnosis and Development of Gene-Based Therapies The Journal of molecular diagnostics : JMD22:782-793 2018 |
| PubMed ID: 32205289 |
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| Paul S, Dansithong W, Figueroa KP, Scoles DR, Pulst SM, Staufen1 links RNA stress granules and autophagy in a model of neurodegeneration Nature communications9:3648 2017 |
| PubMed ID: 30194296 |
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| de Mezer M, Wojciechowska M, Napierala M, Sobczak K, Krzyzosiak WJ, Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference Nucleic acids research39:3852-63 2011 |
| PubMed ID: 21247881 |
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| Fiszer A, Mykowska A, Krzyzosiak WJ, Inhibition of mutant huntingtin expression by RNA duplex targeting expanded CAG repeats Nucleic acids research39:5578-85 2011 |
| PubMed ID: 21427085 |
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| Switonski PM, Fiszer A, Kazmierska K, Kurpisz M, Krzyzosiak WJ, Figiel M, Mouse ataxin-3 functional knock-out model Neuromolecular medicine13:54-65 2010 |
| PubMed ID: 20945165 |
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