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Literature DB >> 28752238

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

Marina Scarlato¹, Andrea Citterio², Alessandra Barbieri³, Claudia Godi⁴, Elena Panzeri², Maria Teresa Bassi².

Abstract

Entities: Gene

Mesh：

Substances：

Year: 2017 PMID： 28752238 DOI： 10.1007/s00415-017-8558-0

Source DB: PubMed Journal: J Neurol ISSN： 0340-5354 Impact factor: 4.849

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9 in total

1. Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.

Authors: Michael A Simpson; Harold Cross; Christos Proukakis; Anna Pryde; Ruth Hershberger; Arnaud Chatonnet; Michael A Patton; Andrew H Crosby
Journal: Am J Hum Genet Date: 2003-10-16 Impact factor: 11.025

2. Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.

Authors: Hiroyuki Ishiura; Yuji Takahashi; Toshihiro Hayashi; Kayoko Saito; Hirokazu Furuya; Mitsunori Watanabe; Miho Murata; Mikiya Suzuki; Akira Sugiura; Setsu Sawai; Kazumoto Shibuya; Naohisa Ueda; Yaeko Ichikawa; Ichiro Kanazawa; Jun Goto; Shoji Tsuji
Journal: J Hum Genet Date: 2014-01-23 Impact factor: 3.172

3. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Authors: Marie Coutelier; Cyril Goizet; Alexandra Durr; Florence Habarou; Sara Morais; Alexandre Dionne-Laporte; Feifei Tao; Juliette Konop; Marion Stoll; Perrine Charles; Maxime Jacoupy; Raphaël Matusiak; Isabel Alonso; Chantal Tallaksen; Mathilde Mairey; Marina Kennerson; Marion Gaussen; Rebecca Schule; Maxime Janin; Fanny Morice-Picard; Christelle M Durand; Christel Depienne; Patrick Calvas; Paula Coutinho; Jean-Marie Saudubray; Guy Rouleau; Alexis Brice; Garth Nicholson; Frédéric Darios; José L Loureiro; Stephan Zuchner; Chris Ottolenghi; Fanny Mochel; Giovanni Stevanin
Journal: Brain Date: 2015-05-29 Impact factor: 13.501

4. Cloning of ACP33 as a novel intracellular ligand of CD4.

Authors: L Zeitlmann; P Sirim; E Kremmer; W Kolanus
Journal: J Biol Chem Date: 2000-12-11 Impact factor: 5.157

5. Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage.

Authors: Federica Agosta; Marina Scarlato; Edoardo G Spinelli; Elisa Canu; Sara Benedetti; Maria Teresa Bassi; Carlo Casali; Maria Sessa; Massimiliano Copetti; Elisabetta Pagani; Giancarlo Comi; Maurizio Ferrari; Andrea Falini; Massimo Filippi
Journal: Radiology Date: 2015-01-22 Impact factor: 11.105

6. Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons.

Authors: Cynthia Soderblom; Julia Stadler; Henri Jupille; Craig Blackstone; Oleg Shupliakov; Michael C Hanna
Journal: Neurogenetics Date: 2010-07-27 Impact factor: 2.660

7. Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1.

Authors: Michael C Hanna; Craig Blackstone
Journal: Neurogenetics Date: 2009-01-31 Impact factor: 2.660

8. Loss of Maspardin Attenuates the Growth and Maturation of Mouse Cortical Neurons.

Authors: Anne Davenport; Alexis Bivona; Will Latson; Larry F Lemanski; Venugopalan Cheriyath
Journal: Neurodegener Dis Date: 2016-03-16 Impact factor: 2.977

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

Authors: Emanuele Panza; Juan M Escamilla-Honrubia; Clara Marco-Marín; Nadine Gougeard; Giuseppe De Michele; Vincenzo Brescia Morra; Rocco Liguori; Leonardo Salviati; Maria Alice Donati; Roberto Cusano; Tommaso Pippucci; Roberto Ravazzolo; Andrea H Németh; Sarah Smithson; Sally Davies; Jane A Hurst; Domenico Bordo; Vicente Rubio; Marco Seri
Journal: Brain Date: 2015-08-21 Impact factor: 13.501