Literature DB >> 26497993

SCP2 mutations and neurodegeneration with brain iron accumulation.

Rita Horvath1, David Lewis-Smith1, Konstantinos Douroudis1, Jennifer Duff1, Michael Keogh1, Angela Pyle1, Nicholas Fletcher1, Patrick F Chinnery2.   

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Year:  2015        PMID： 26497993      PMCID： PMC4662697          DOI： 10.1212/WNL.0000000000002157

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  6 in total

Review 1.  Mouse models for peroxisome biogenesis defects and β-oxidation enzyme deficiencies.

Authors:  Myriam Baes; Paul P Van Veldhoven
Journal:  Biochim Biophys Acta       Date:  2012-03-14

2.  Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.

Authors:  S Ferdinandusse; P Kostopoulos; S Denis; H Rusch; H Overmars; U Dillmann; W Reith; D Haas; R J A Wanders; M Duran; M Marziniak
Journal:  Am J Hum Genet       Date:  2006-03-29       Impact factor: 11.025

3.  A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.

Authors:  B Zhou; S K Westaway; B Levinson; M A Johnson; J Gitschier; S J Hayflick
Journal:  Nat Genet       Date:  2001-08       Impact factor: 38.330

4.  Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

Authors:  Michael C Kruer; Coro Paisán-Ruiz; Nathalie Boddaert; Moon Y Yoon; Hiroko Hama; Allison Gregory; Alessandro Malandrini; Randall L Woltjer; Arnold Munnich; Stephanie Gobin; Brenda J Polster; Silvia Palmeri; Simon Edvardson; John Hardy; Henry Houlden; Susan J Hayflick
Journal:  Ann Neurol       Date:  2010-11       Impact factor: 10.422

5.  Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

Authors:  Simon Edvardson; Hiroko Hama; Avraham Shaag; John Moshe Gomori; Itai Berger; Dov Soffer; Stanley H Korman; Ilana Taustein; Ann Saada; Orly Elpeleg
Journal:  Am J Hum Genet       Date:  2008-11       Impact factor: 11.025

6.  Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.

Authors:  Sabrina Dusi; Lorella Valletta; Tobias B Haack; Yugo Tsuchiya; Paola Venco; Sebastiano Pasqualato; Paola Goffrini; Marco Tigano; Nikita Demchenko; Thomas Wieland; Thomas Schwarzmayr; Tim M Strom; Federica Invernizzi; Barbara Garavaglia; Allison Gregory; Lynn Sanford; Jeffrey Hamada; Conceição Bettencourt; Henry Houlden; Luisa Chiapparini; Giovanna Zorzi; Manju A Kurian; Nardo Nardocci; Holger Prokisch; Susan Hayflick; Ivan Gout; Valeria Tiranti
Journal:  Am J Hum Genet       Date:  2013-12-19       Impact factor: 11.025
  6 in total
  9 in total

1.  Ablating both Fabp1 and Scp2/Scpx (TKO) induces hepatic phospholipid and cholesterol accumulation in high fat-fed mice.

Authors:  Sherrelle Milligan; Gregory G Martin; Danilo Landrock; Avery L McIntosh; John T Mackie; Friedhelm Schroeder; Ann B Kier
Journal:  Biochim Biophys Acta Mol Cell Biol Lipids       Date:  2018-01-04       Impact factor: 4.698

2.  Impact of dietary phytol on lipid metabolism in SCP2/SCPX/L-FABP null mice.

Authors:  Sherrelle Milligan; Gregory G Martin; Danilo Landrock; Avery L McIntosh; John T Mackie; Friedhelm Schroeder; Ann B Kier
Journal:  Biochim Biophys Acta Mol Cell Biol Lipids       Date:  2016-12-06       Impact factor: 4.698

Review 3.  Cerebral Iron Deposition in Neurodegeneration.

Authors:  Petr Dusek; Tim Hofer; Jan Alexander; Per M Roos; Jan O Aaseth
Journal:  Biomolecules       Date:  2022-05-17

4.  Substantia nigra echogenicity is associated with serum ferritin, gender and iron-related genes in Parkinson's disease.

Authors:  Kai Li; Yi-Lun Ge; Chen-Chen Gu; Jin-Ru Zhang; Hong Jin; Jiao Li; Xiao-Yu Cheng; Ya-Ping Yang; Fen Wang; Ying-Chun Zhang; Jing Chen; Cheng-Jie Mao; Chun-Feng Liu
Journal:  Sci Rep       Date:  2020-05-26       Impact factor: 4.379

Review 5.  Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation.

Authors:  Robert V V Spaull; Audrey K S Soo; Penelope Hogarth; Susan J Hayflick; Manju A Kurian
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2021-11-24

6.  Identification of Novel Key Molecular Signatures in the Pathogenesis of Experimental Diabetic Kidney Disease.

Authors:  Meng Diao; Yimu Wu; Jialu Yang; Caiying Liu; Jinyuan Xu; Hongchao Jin; Juan Wang; Jieping Zhang; Furong Gao; Caixia Jin; Haibin Tian; Jingying Xu; Qingjian Ou; Ying Li; Guotong Xu; Lixia Lu
Journal:  Front Endocrinol (Lausanne)       Date:  2022-03-30       Impact factor: 5.555

7.  SCP2 variant is associated with alterations in lipid metabolism, brainstem neurodegeneration, and testicular defects.

Authors:  Melanie Galano; Shereen Ezzat; Vassilios Papadopoulos
Journal:  Hum Genomics       Date:  2022-08-22       Impact factor: 6.481

Review 8.  Dysfunctional peroxisomal lipid metabolisms and their ocular manifestations.

Authors:  Chuck T Chen; Zhuo Shao; Zhongjie Fu
Journal:  Front Cell Dev Biol       Date:  2022-09-07

9.  Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.

Authors:  Shekeeb S Mohammad; Rajeshwar Reddy Angiti; Andrew Biggin; Hugo Morales-Briceño; Robert Goetti; Belen Perez-Dueñas; Allison Gregory; Penelope Hogarth; Joanne Ng; Apostolos Papandreou; Kaustuv Bhattacharya; Shamima Rahman; Kristina Prelog; Richard I Webster; Evangeline Wassmer; Susan Hayflick; John Livingston; Manju Kurian; W Kling Chong; Russell C Dale
Journal:  Brain Commun       Date:  2020-10-26
  9 in total

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