Compound heterozygous mutation of AFG3L2 causes autosomal recessive spinocerebellar ataxia through mitochondrial impairment and MICU1 mediated Ca2+ overload.
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| Title: | Compound heterozygous mutation of AFG3L2 causes autosomal recessive spinocerebellar ataxia through mitochondrial impairment and MICU1 mediated Ca2+ overload. |
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| Authors: | Li H; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200040, China.; Department of Histo-Embryology, Genetics and Developmental Biology, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China., Ma Q; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200040, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China., Xue Y; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200040, China.; Department of Histo-Embryology, Genetics and Developmental Biology, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China., Cai L; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200040, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China., Bao L; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200040, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China., Hong L; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200040, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China., Zeng Y; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200040, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China., Huang SZ; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200040, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China., Finnell RH; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200040, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China.; Center for Precision Environmental Health, Baylor College of Medicine, Houston, 77030, USA., Zeng F; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200040, China. fzeng@vip.163.com.; Department of Histo-Embryology, Genetics and Developmental Biology, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China. fzeng@vip.163.com.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China. fzeng@vip.163.com.; School of Pharmacy, Macau University of Science and Technology, Macao, 999078, China. fzeng@vip.163.com. |
| Source: | Science China. Life sciences [Sci China Life Sci] 2025 Feb; Vol. 68 (2), pp. 484-501. Date of Electronic Publication: 2024 Oct 11. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Science China Press, co-published with Springer Country of Publication: China NLM ID: 101529880 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1869-1889 (Electronic) Linking ISSN: 16747305 NLM ISO Abbreviation: Sci China Life Sci Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 39428429 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Compound heterozygous mutation of AFG3L2 causes autosomal recessive spinocerebellar ataxia through mitochondrial impairment and MICU1 mediated Ca<superscript>2+</superscript> overload. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Li+H%22">Li H</searchLink>; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200040, China.; Department of Histo-Embryology, Genetics and Developmental Biology, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China.<br /><searchLink fieldCode="AU" term="%22Ma+Q%22">Ma Q</searchLink>; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200040, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China.<br /><searchLink fieldCode="AU" term="%22Xue+Y%22">Xue Y</searchLink>; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200040, China.; Department of Histo-Embryology, Genetics and Developmental Biology, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China.<br /><searchLink fieldCode="AU" term="%22Cai+L%22">Cai L</searchLink>; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200040, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China.<br /><searchLink fieldCode="AU" term="%22Bao+L%22">Bao L</searchLink>; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200040, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China.<br /><searchLink fieldCode="AU" term="%22Hong+L%22">Hong L</searchLink>; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200040, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China.<br /><searchLink fieldCode="AU" term="%22Zeng+Y%22">Zeng Y</searchLink>; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200040, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China.<br /><searchLink fieldCode="AU" term="%22Huang+SZ%22">Huang SZ</searchLink>; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200040, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China.<br /><searchLink fieldCode="AU" term="%22Finnell+RH%22">Finnell RH</searchLink>; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200040, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China.; Center for Precision Environmental Health, Baylor College of Medicine, Houston, 77030, USA.<br /><searchLink fieldCode="AU" term="%22Zeng+F%22">Zeng F</searchLink>; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200040, China. fzeng@vip.163.com.; Department of Histo-Embryology, Genetics and Developmental Biology, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China. fzeng@vip.163.com.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China. fzeng@vip.163.com.; School of Pharmacy, Macau University of Science and Technology, Macao, 999078, China. fzeng@vip.163.com. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101529880%22">Science China. Life sciences</searchLink> [Sci China Life Sci] 2025 Feb; Vol. 68 (2), pp. 484-501. <i>Date of Electronic Publication: </i>2024 Oct 11. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Case Reports – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Science+China+Press%2C+co-published+with+Springer%22">Science China Press, co-published with Springer </searchLink><i>Country of Publication: </i>China <i>NLM ID: </i>101529880 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1869-1889 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216747305%22">16747305 </searchLink><i>NLM ISO Abbreviation: </i>Sci China Life Sci <i>Subsets: </i>MEDLINE |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s11427-023-2549-2 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 484 Titles: – TitleFull: Compound heterozygous mutation of AFG3L2 causes autosomal recessive spinocerebellar ataxia through mitochondrial impairment and MICU1 mediated Ca2+ overload. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Li H – PersonEntity: Name: NameFull: Ma Q – PersonEntity: Name: NameFull: Xue Y – PersonEntity: Name: NameFull: Cai L – PersonEntity: Name: NameFull: Bao L – PersonEntity: Name: NameFull: Hong L – PersonEntity: Name: NameFull: Zeng Y – PersonEntity: Name: NameFull: Huang SZ – PersonEntity: Name: NameFull: Finnell RH – PersonEntity: Name: NameFull: Zeng F IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 02 Text: 2025 Feb Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1869-1889 Numbering: – Type: volume Value: 68 – Type: issue Value: 2 Titles: – TitleFull: Science China. Life sciences Type: main |
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