Literature DB >> 22826544

Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations.

Estelle Valerie Tenisch1, Anne-Sophie Lebre, David Grévent, Pascale de Lonlay, Marlene Rio, Monica Zilbovicius, Benoît Funalot, Isabelle Desguerre, Francis Brunelle, Agnès Rötig, Arnold Munnich, Nathalie Boddaert.   

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Year:  2012        PMID： 22826544     DOI： 10.1212/WNL.0b013e3182611232

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


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  10 in total

1.  The evolutionarily conserved iron-sulfur protein INDH is required for complex I assembly and mitochondrial translation in Arabidopsis [corrected].

Authors:  Mateusz M Wydro; Pia Sharma; Jonathan M Foster; Katrine Bych; Etienne H Meyer; Janneke Balk
Journal:  Plant Cell       Date:  2013-10-31       Impact factor: 11.277

2.  Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.

Authors:  Marisa W Friederich; Francisco A Perez; Kaz M Knight; Roxanne A Van Hove; Samuel P Yang; Russell P Saneto; Johan L K Van Hove
Journal:  Mol Genet Metab       Date:  2019-12-30       Impact factor: 4.797

3.  Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.

Authors:  Sze Chern Lim; Martin Friemel; Justine E Marum; Elena J Tucker; Damien L Bruno; Lisa G Riley; John Christodoulou; Edwin P Kirk; Avihu Boneh; Christine M DeGennaro; Michael Springer; Vamsi K Mootha; Tracey A Rouault; Silke Leimkühler; David R Thorburn; Alison G Compton
Journal:  Hum Mol Genet       Date:  2013-06-28       Impact factor: 6.150

4.  NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.

Authors:  Sietske H Kevelam; Richard J Rodenburg; Nicole I Wolf; Patrick Ferreira; Roelineke J Lunsing; Leo G Nijtmans; Anne Mitchell; Hugo A Arroyo; Dietz Rating; Adeline Vanderver; Carola G M van Berkel; Truus E M Abbink; Peter Heutink; Marjo S van der Knaap
Journal:  Neurology       Date:  2013-04-03       Impact factor: 9.910

Review 5.  Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery.

Authors:  Nunziata Maio; Tracey A Rouault
Journal:  Biochim Biophys Acta       Date:  2014-09-19

6.  Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.

Authors:  Laura Sánchez-Caballero; Benedetta Ruzzenente; Lucas Bianchi; Zahra Assouline; Giulia Barcia; Metodi D Metodiev; Marlène Rio; Benoît Funalot; Mariël A M van den Brand; Sergio Guerrero-Castillo; Joery P Molenaar; David Koolen; Ulrich Brandt; Richard J Rodenburg; Leo G Nijtmans; Agnès Rötig
Journal:  Am J Hum Genet       Date:  2016-06-30       Impact factor: 11.025

7.  Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica.

Authors:  Andrew E Maclean; Virginia E Kimonis; Janneke Balk
Journal:  Hum Mol Genet       Date:  2018-11-01       Impact factor: 5.121

8.  Insights into the pathogenic character of a common NUBPL branch-site mutation associated with mitochondrial disease and complex I deficiency using a yeast model.

Authors:  Mateusz M Wydro; Janneke Balk
Journal:  Dis Model Mech       Date:  2013-07-04       Impact factor: 5.758

Review 9.  Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.

Authors:  Majid Alfadhel; Marwan Nashabat; Qais Abu Ali; Khalid Hundallah
Journal:  Neurosciences (Riyadh)       Date:  2017-01       Impact factor: 0.906

Review 10.  Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway.

Authors:  A V Vanlander; R Van Coster
Journal:  J Biol Inorg Chem       Date:  2018-04-05       Impact factor: 3.358
  10 in total

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