Literature DB >> 36247900

Autosomal Recessive Spastic Paraplegia Type 78 Associated with a Homozygous Variant in the ATP13A2 Gene.

Hussein Algahtani1,2,3, Bader Shirah4, Salem Alshammari3, Fareeda Alghamdi3, Angham Abdulrhman Abdulkareem5, Muhammad Imran Naseer5,6.   

Abstract

Entities:  

Keywords:  ATP13A2; Saudi Arabia; autosomal recessive; hereditary spastic paraplegia 78; mutation

Year:  2022        PMID： 36247900      PMCID： PMC9547136          DOI： 10.1002/mdc3.13508

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  9 in total

1.  ATP13A2/PARK9 regulates endo-/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2-mediated scaffolding function.

Authors:  S Demirsoy; S Martin; S Motamedi; S van Veen; T Holemans; C Van den Haute; A Jordanova; V Baekelandt; P Vangheluwe; P Agostinis
Journal:  Hum Mol Genet       Date:  2017-05-01       Impact factor: 6.150

2.  From PARK9 to SPG78: The clinical spectrum of ATP13A2 mutations.

Authors:  Roberto Erro; Marina Picillo; Renzo Manara; Maria Teresa Pellecchia; Paolo Barone
Journal:  Parkinsonism Relat Disord       Date:  2019-05-23       Impact factor: 4.891

3.  Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?

Authors:  Susanne de Bot; Erik-Jan Kamsteeg; Bart P C Van De Warrenburg
Journal:  Brain       Date:  2017-12-01       Impact factor: 13.501

4.  Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

Authors:  Alejandro Estrada-Cuzcano; Shaun Martin; Teodora Chamova; Matthis Synofzik; Dagmar Timmann; Tine Holemans; Albena Andreeva; Jennifer Reichbauer; Riet De Rycke; Dae-In Chang; Sarah van Veen; Jean Samuel; Ludger Schöls; Thorsten Pöppel; Danny Mollerup Sørensen; Bob Asselbergh; Christine Klein; Stephan Zuchner; Albena Jordanova; Peter Vangheluwe; Ivailo Tournev; Rebecca Schüle
Journal:  Brain       Date:  2017-02       Impact factor: 13.501

5.  Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia.

Authors:  Yasuko Odake; Kishin Koh; Yoshihisa Takiyama; Hiroyuki Ishiura; Shoji Tsuji; Masahito Yamada; Mitsuhiro Yoshita
Journal:  Neurol Genet       Date:  2020-09-08

6.  Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.

Authors:  Bart P van de Warrenburg; Meyke I Schouten; Susanne T de Bot; Sascha Vermeer; Rowdy Meijer; Maartje Pennings; Christian Gilissen; Michèl Aap Willemsen; Hans Scheffer; Erik-Jan Kamsteeg
Journal:  Eur J Hum Genet       Date:  2016-05-11       Impact factor: 4.246

Review 7.  Hereditary Spastic Paraplegia: An Update.

Authors:  Arun Meyyazhagan; Antonio Orlacchio
Journal:  Int J Mol Sci       Date:  2022-02-01       Impact factor: 5.923

8.  Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.

Authors:  Mehrdad A Estiar; Etienne Leveille; Dan Spiegelman; Nicolas Dupre; Jean-François Trempe; Guy A Rouleau; Ziv Gan-Or
Journal:  Mol Genet Genomic Med       Date:  2020-01-15       Impact factor: 2.183

9.  Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Authors:  Eleanna Kara; Arianna Tucci; Claudia Manzoni; David S Lynch; Marilena Elpidorou; Conceicao Bettencourt; Viorica Chelban; Andreea Manole; Sherifa A Hamed; Nourelhoda A Haridy; Monica Federoff; Elisavet Preza; Deborah Hughes; Alan Pittman; Zane Jaunmuktane; Sebastian Brandner; Georgia Xiromerisiou; Sarah Wiethoff; Lucia Schottlaender; Christos Proukakis; Huw Morris; Tom Warner; Kailash P Bhatia; L V Prasad Korlipara; Andrew B Singleton; John Hardy; Nicholas W Wood; Patrick A Lewis; Henry Houlden
Journal:  Brain       Date:  2016-05-23       Impact factor: 15.255
  9 in total

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