Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia-Reference-Cited by-同舟云学术

Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia

Published:2018-05-12 Issue:3 Volume:19 Page:145-149
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Steenhof Maria^ORCID,Kibæk Maria,Larsen Martin J.,Christensen Mette,Lund Allan Meldgaard,Brusgaard Klaus,Hertz Jens Michael

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1007/s10048-018-0547-7/fulltext.html

Reference12 articles.

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3. Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F, Durand CM, Depienne C, Calvas P, Coutinho P, Saudubray JM, Rouleau G, Brice A, Nicholson G, Darios F, Loureiro JL, Zuchner S, Ottolenghi C, Mochel F, Stevanin G (2015) Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain 138(Pt 8):2191–2205. https://doi.org/10.1093/brain/awv143

4. Panza E, Escamilla-Honrubia JM, Marco-Marin C, Gougeard N, De Michele G, Morra VB, Liguori R, Salviati L, Donati MA, Cusano R, Pippucci T, Ravazzolo R, Nemeth AH, Smithson S, Davies S, Hurst JA, Bordo D, Rubio V, Seri M (2016) ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. Brain 139(Pt 1):e3. https://doi.org/10.1093/brain/awv247

5. Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Kruger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U (2015) Recurrent de novo mutations affecting residue Arg138 of pyrroline-5-carboxylate synthase cause a progeroid form of autosomal-dominant cutis laxa. Am J Hum Genet 97(3):483–492. https://doi.org/10.1016/j.ajhg.2015.08.001

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3. Ataxia and spastic paraplegia in mitochondrial disease;Mitochondrial Diseases;2023

4. Two novel mutations in ALDH18A1 and SPG11 gene found by whole-exome sequencing in spastic paraplegia disease patients in Iran;Genomics & Informatics;2022-09-30

5. Aldehyde Dehydrogenase 2 as a Therapeutic Target in Oxidative Stress-Related Diseases: Post-Translational Modifications Deserve More Attention;International Journal of Molecular Sciences;2022-02-28