SCA34 caused by ELOVL4 L168F mutation is a lysosomal lipid storage disease sharing pathology features with neuronal ceroid lipofuscinosis and peroxisomal disorders-Reference-Cited by-同舟云学术

SCA34 caused by ELOVL4 L168F mutation is a lysosomal lipid storage disease sharing pathology features with neuronal ceroid lipofuscinosis and peroxisomal disorders

Published:2023-05-15 Issue:2 Volume:146 Page:337-352
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Ellezam Benjamin^ORCID,Kaseka Matsanga L.,Nguyen Dang Khoa,Michaud Jean

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Link

https://link.springer.com/content/pdf/10.1007/s00401-023-02582-0.pdf

Reference55 articles.

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2. Agbaga MP, Brush RS, Mandal MN, Henry K, Elliott MH, Anderson RE (2008) Role of stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acids. Proc Natl Acad Sci U S A 105:12843–12848. https://doi.org/10.1073/pnas.0802607105

3. Aldahmesh MA, Mohamed JY, Alkuraya HS, Verma IC, Puri RD, Alaiya AA et al (2011) Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet 89:745–750. https://doi.org/10.1016/j.ajhg.2011.10.011

4. Anderson G, Elleder M, Goebel HH (2011) Morphological Diagnostic and Pathological Considerations. In: Mole SE, Williams RE, Goebel HH (eds) The neuronal ceroid lipofuscinoses (batten disease), 2nd edn. Oxford University Press, New York, pp 35–49

5. Beaudin M, Sellami L, Martel C, Touzel-Deschenes L, Houle G, Martineau L et al (2020) Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34. Neurol Genet 6:e403. https://doi.org/10.1212/NXG.0000000000000403

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