Literature DB >> 24517879

Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum.

A Magariello1, L Citrigno, S Zuchner, M Gonzalez, A Patitucci, V Sofia, F L Conforti, I Pappalardo, R Mazzei, C Ungaro, M Zappia, M Muglia.   

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Year:  2014        PMID： 24517879     DOI： 10.1111/ene.12305

Source DB:  PubMed          Journal:  Eur J Neurol        ISSN： 1351-5101            Impact factor:   6.089


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  7 in total

1.  Functional Contribution of the Spastic Paraplegia-Related Triglyceride Hydrolase DDHD2 to the Formation and Content of Lipid Droplets.

Authors:  Jordon M Inloes; William B Kiosses; Huajin Wang; Tobias C Walther; Robert V Farese; Benjamin F Cravatt
Journal:  Biochemistry       Date:  2017-12-26       Impact factor: 3.162

2.  Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.

Authors:  Francesco Nicita; Fabrizia Stregapede; Alessandra Tessa; Maria Teresa Bassi; Aleksandra Jezela-Stanek; Guido Primiano; Antonio Pizzuti; Melissa Barghigiani; Marta Nardella; Ginevra Zanni; Serenella Servidei; Guja Astrea; Elena Panzeri; Cristina Maghini; Luciana Losito; Rafal Ploski; Piotr Gasperowicz; Filippo Maria Santorelli; Enrico Bertini; Lorena Travaglini
Journal:  J Neurol       Date:  2019-07-13       Impact factor: 4.849

Review 3.  Lipid-metabolizing serine hydrolases in the mammalian central nervous system: endocannabinoids and beyond.

Authors:  Myungsun Shin; Timothy B Ware; Hyeon-Cheol Lee; Ku-Lung Hsu
Journal:  Biochim Biophys Acta Mol Cell Biol Lipids       Date:  2018-08-16       Impact factor: 4.698

Review 4.  Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes.

Authors:  Ya-Wen Lu; Steven M Claypool
Journal:  Front Genet       Date:  2015-02-03       Impact factor: 4.599

5.  Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.

Authors:  Hiroshi Doi; Masao Ushiyama; Takashi Baba; Katsuko Tani; Masaaki Shiina; Kazuhiro Ogata; Satoko Miyatake; Yoko Fukuda-Yuzawa; Shoji Tsuji; Mitsuko Nakashima; Yoshinori Tsurusaki; Noriko Miyake; Hirotomo Saitsu; Shu-ichi Ikeda; Fumiaki Tanaka; Naomichi Matsumoto; Kunihiro Yoshida
Journal:  Sci Rep       Date:  2014-11-24       Impact factor: 4.379

6.  Case report: Novel compound heterozygous missense mutations in the DDHD2 gene in a Chinese patient associated with spastic paraplegia type 54.

Authors:  Xin Xu; Fen Lu; Senjie Du; Xiaoke Zhao; Hongying Li; Li Zhang; Jian Tang
Journal:  Front Pediatr       Date:  2022-08-26       Impact factor: 3.569

7.  Loss of DDHD2, whose mutation causes spastic paraplegia, promotes reactive oxygen species generation and apoptosis.

Authors:  Tomohiro Maruyama; Takashi Baba; Yuki Maemoto; Chikako Hara-Miyauchi; Minami Hasegawa-Ogawa; Hirotaka James Okano; Yuki Enda; Kei Matsumoto; Nagisa Arimitsu; Kazuki Nakao; Hiroshi Hamamoto; Kazuhisa Sekimizu; Takayo Ohto-Nakanishi; Hiroki Nakanishi; Takeshi Tokuyama; Shigeru Yanagi; Mitsuo Tagaya; Katsuko Tani
Journal:  Cell Death Dis       Date:  2018-07-23       Impact factor: 8.469
  7 in total

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