Literature DB >> 16547921

Homozygous and heterozygous PINK1 mutations: considerations for diagnosis and care of Parkinson's disease patients.

Cindy Zadikoff1, Ekaterina Rogaeva, Ana Djarmati, Christine Sato, Shabnam Salehi-Rad, Peter St George-Hyslop, Christine Klein, Anthony E Lang.   

Abstract

The first mutations described in PINK1 were homozygous. More recently, heterozygous mutations have been reported but the role of heterozygosity in disease pathogenesis is still debated. We describe two unrelated cases with PINK1 mutations (homozygous nonsense and heterozygous missense) that highlight issues regarding the role of heterozygous mutations and the utility of genetic screening in patient care.

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Year:  2006        PMID： 16547921     DOI： 10.1002/mds.20854

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


  10 in total

1.  PINK1 mutation heterozygosity and the risk of Parkinson's disease.

Authors:  M Toft; R Myhre; L Pielsticker; L R White; J O Aasly; M J Farrer
Journal:  J Neurol Neurosurg Psychiatry       Date:  2007-01       Impact factor: 10.154

2.  Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.

Authors:  Anne Grünewald; Guido J Breedveld; Katja Lohmann-Hedrich; Christan F Rohé; Inke R König; Johann Hagenah; Nicola Vanacore; Giuseppe Meco; Angelo Antonini; Stefano Goldwurm; Suzanne Lesage; Alexandra Dürr; Ferdinand Binkofski; Hartwig Siebner; Alexander Münchau; Alexis Brice; Ben A Oostra; Christine Klein; Vincenzo Bonifati
Journal:  Neurogenetics       Date:  2007-01-12       Impact factor: 2.660

3.  Differential submitochondrial localization of PINK1 as a molecular switch for mediating distinct mitochondrial signaling pathways.

Authors:  Dana Fallaize; Lih-Shen Chin; Lian Li
Journal:  Cell Signal       Date:  2015-10-06       Impact factor: 4.315

Review 4.  The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.

Authors:  David N Hauser; Christopher T Primiani; Mark R Cookson
Journal:  Curr Protein Pept Sci       Date:  2017       Impact factor: 3.272

Review 5.  The role of PTEN-induced kinase 1 in mitochondrial dysfunction and dynamics.

Authors:  Kelly Jean Thomas; Mark R Cookson
Journal:  Int J Biochem Cell Biol       Date:  2009-03-05       Impact factor: 5.085

6.  Characterization of PINK1 processing, stability, and subcellular localization.

Authors:  William Lin; Un Jung Kang
Journal:  J Neurochem       Date:  2008-07-01       Impact factor: 5.372

7.  Early-onset Parkinson's disease due to PINK1 p.Q456X mutation--clinical and functional study.

Authors:  Joanna Siuda; Barbara Jasinska-Myga; Magdalena Boczarska-Jedynak; Grzegorz Opala; Fabienne C Fiesel; Elisabeth L Moussaud-Lamodière; Leslie A Scarffe; Valina L Dawson; Owen A Ross; Wolfdieter Springer; Ted M Dawson; Zbigniew K Wszolek
Journal:  Parkinsonism Relat Disord       Date:  2014-09-02       Impact factor: 4.891

8.  PINK1 protects against oxidative stress by phosphorylating mitochondrial chaperone TRAP1.

Authors:  Julia W Pridgeon; James A Olzmann; Lih-Shen Chin; Lian Li
Journal:  PLoS Biol       Date:  2007-06-19       Impact factor: 8.029

9.  Mitochondrial cell death control in familial Parkinson disease.

Authors:  Guido Kroemer; Klas Blomgren
Journal:  PLoS Biol       Date:  2007-07-17       Impact factor: 8.029

Review 10.  Ubiquitin phosphorylation in Parkinson's disease: Implications for pathogenesis and treatment.

Authors:  Lih-Shen Chin; Lian Li
Journal:  Transl Neurodegener       Date:  2016-01-06       Impact factor: 8.014
  10 in total

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