Literature DB >> 26297558

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.

Emanuele Panza1, Juan M Escamilla-Honrubia2, Clara Marco-Marín3, Nadine Gougeard3, Giuseppe De Michele4, Vincenzo Brescia Morra4, Rocco Liguori5, Leonardo Salviati6, Maria Alice Donati7, Roberto Cusano8, Tommaso Pippucci9, Roberto Ravazzolo10, Andrea H Németh11, Sarah Smithson12, Sally Davies13, Jane A Hurst14, Domenico Bordo15, Vicente Rubio3, Marco Seri9.   

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Year:  2015        PMID: 26297558     DOI: 10.1093/brain/awv247

Source DB:  PubMed          Journal:  Brain        ISSN: 0006-8950            Impact factor:   13.501


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  15 in total

1.  Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21.

Authors:  Marina Scarlato; Andrea Citterio; Alessandra Barbieri; Claudia Godi; Elena Panzeri; Maria Teresa Bassi
Journal:  J Neurol       Date:  2017-07-27       Impact factor: 4.849

2.  Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment.

Authors:  Kishin Koh; Hiroyuki Ishiura; Minako Beppu; Haruo Shimazaki; Yuta Ichinose; Jun Mitsui; Satoshi Kuwabara; Shoji Tsuji; Yoshihisa Takiyama
Journal:  J Hum Genet       Date:  2018-06-18       Impact factor: 3.172

Review 3.  Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.

Authors:  Hélio A G Teive; Carlos Henrique F Camargo; Eduardo R Pereira; Léo Coutinho; Renato P Munhoz
Journal:  Neurogenetics       Date:  2022-04-09       Impact factor: 3.017

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

Authors:  Maria Steenhof; Maria Kibæk; Martin J Larsen; Mette Christensen; Allan Meldgaard Lund; Klaus Brusgaard; Jens Michael Hertz
Journal:  Neurogenetics       Date:  2018-05-12       Impact factor: 2.660

5.  Genetic analysis of Pycr1 and Pycr2 in mice.

Authors:  Morgane G Stum; Abigail L D Tadenev; Kevin L Seburn; Kathy E Miers; Pak P Poon; Christopher R McMaster; Carolyn Robinson; Coleen Kane; Kathleen A Silva; Paul F Cliften; John P Sundberg; Laura G Reinholdt; Simon W M John; Robert W Burgess
Journal:  Genetics       Date:  2021-05-17       Impact factor: 4.562

Review 6.  Importance of lipids for upper motor neuron health and disease.

Authors:  Aksu Gunay; Heather H Shin; Oge Gozutok; Mukesh Gautam; P Hande Ozdinler
Journal:  Semin Cell Dev Biol       Date:  2020-12-13       Impact factor: 7.727

Review 7.  Amino acid synthesis deficiencies.

Authors:  T J de Koning
Journal:  J Inherit Metab Dis       Date:  2017-06-26       Impact factor: 4.982

Review 8.  Neurometabolic disorders: Five new things.

Authors:  Michèl A Willemsen; Inga Harting; Ron A Wevers
Journal:  Neurol Clin Pract       Date:  2016-08

9.  Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia.

Authors:  Yi-Jun Chen; Zai-Qiang Zhang; Meng-Wen Wang; Yu-Sen Qiu; Ru-Ying Yuan; En-Lin Dong; Zhe Zhao; Hai-Tao Zhou; Ning Wang; Wan-Jin Chen; Xiang Lin
Journal:  Front Neurol       Date:  2021-05-19       Impact factor: 4.003

10.  Identification of cancer-type specific expression patterns for active aldehyde dehydrogenase (ALDH) isoforms in ALDEFLUOR assay.

Authors:  Lei Zhou; Dandan Sheng; Dong Wang; Wei Ma; Qiaodan Deng; Lu Deng; Suling Liu
Journal:  Cell Biol Toxicol       Date:  2018-09-15       Impact factor: 6.691

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