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Pregled bibliografske jedinice broj: 744732

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Zimon, Magdalena; Baets, Jonathan; Almeida-Souza, Leonardo; De Vriendt, Els; Nikodinović, Jelena; Parman, Yesim; Battaloglu, Esra; Matur, Zeliha; Guergueltcheva, Velina; Tournev, Ivailo et al.
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia // Nature genetics, 44 (2012), 10; 1080-1083 doi:10.1038/ng.2406 (međunarodna recenzija, kratko priopcenje, znanstveni)

CROSBI ID: 744732 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Autori
Zimon, Magdalena ; Baets, Jonathan ; Almeida-Souza, Leonardo ; De Vriendt, Els ; Nikodinović, Jelena ; Parman, Yesim ; Battaloglu, Esra ; Matur, Zeliha ; Guergueltcheva, Velina ; Tournev, Ivailo ; Auer-Grumbach, Michaela ; De Rijk, Peter ; Petersen, Britt-Sabina ; Muller, Thomas ; Fransen, Erik ; Van Damme, Philip ; Loscher, N. Wolfgang ; Barišić, Nina ; Mitrović, Zoran ; Previtali, C. Stefano ; Topaloglu, Haluk ; Bernert, Gunther ; Beleza-Meireles, Ana ; Todorović, Slobodanka ; Savić-Pavičević, Dušanka ; Ishpekova, Boryana ; Lechner, Silvia ; Peeters, Kristien ; Ooms, Tinne ; Hahn, F. Angelika ; Zuchner, Stephen ; Timmerman, Vincent ; Van Dijck, Patrick ; Milić Rašić, Vedrana ; Janecke, R. Andreas ; De Jonghe, Peter ; Jordanova, Albena

Izvornik
Nature genetics (1061-4036) 44 (2012), 10; 1080-1083

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, kratko priopcenje, znanstveni

Ključne riječi
generated lysyl-adenylate; histidine; supports; mice

Sažetak
Inherited peripheral neuropathies are frequent neuromuscular disorders known for their clinical and genetic heterogeneity. In 33 families, we identified 8 mutations in HINT1 (encoding histidine triad nucleotide-binding protein 1) by combining linkage analyses with next-generation sequencing and subsequent cohort screening of affected individuals. Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb

Profili:

Avatar Url Zoran Mitrović (autor)

Avatar Url Nina Barišić (autor)

Poveznice na cjeloviti tekst rada:

doi www.nature.com

Citiraj ovu publikaciju:

Zimon, Magdalena; Baets, Jonathan; Almeida-Souza, Leonardo; De Vriendt, Els; Nikodinović, Jelena; Parman, Yesim; Battaloglu, Esra; Matur, Zeliha; Guergueltcheva, Velina; Tournev, Ivailo et al.
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia // Nature genetics, 44 (2012), 10; 1080-1083 doi:10.1038/ng.2406 (međunarodna recenzija, kratko priopcenje, znanstveni)
Zimon, M., Baets, J., Almeida-Souza, L., De Vriendt, E., Nikodinović, J., Parman, Y., Battaloglu, E., Matur, Z., Guergueltcheva, V. & Tournev, I. (2012) Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nature genetics, 44 (10), 1080-1083 doi:10.1038/ng.2406.
@article{article, author = {Zimon, Magdalena and Baets, Jonathan and Almeida-Souza, Leonardo and De Vriendt, Els and Nikodinovi\'{c}, Jelena and Parman, Yesim and Battaloglu, Esra and Matur, Zeliha and Guergueltcheva, Velina and Tournev, Ivailo and Auer-Grumbach, Michaela and De Rijk, Peter and Petersen, Britt-Sabina and Muller, Thomas and Fransen, Erik and Van Damme, Philip and Loscher, N. Wolfgang and Bari\v{s}i\'{c}, Nina and Mitrovi\'{c}, Zoran and Previtali, C. Stefano and Topaloglu, Haluk and Bernert, Gunther and Beleza-Meireles, Ana and Todorovi\'{c}, Slobodanka and Savi\'{c}-Pavi\v{c}evi\'{c}, Du\v{s}anka and Ishpekova, Boryana and Lechner, Silvia and Peeters, Kristien and Ooms, Tinne and Hahn, F. Angelika and Zuchner, Stephen and Timmerman, Vincent and Van Dijck, Patrick and Mili\'{c} Ra\v{s}i\'{c}, Vedrana and Janecke, R. Andreas and De Jonghe, Peter and Jordanova, Albena}, year = {2012}, pages = {1080-1083}, DOI = {10.1038/ng.2406}, keywords = {generated lysyl-adenylate, histidine, supports, mice}, journal = {Nature genetics}, doi = {10.1038/ng.2406}, volume = {44}, number = {10}, issn = {1061-4036}, title = {Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia}, keyword = {generated lysyl-adenylate, histidine, supports, mice} }
@article{article, author = {Zimon, Magdalena and Baets, Jonathan and Almeida-Souza, Leonardo and De Vriendt, Els and Nikodinovi\'{c}, Jelena and Parman, Yesim and Battaloglu, Esra and Matur, Zeliha and Guergueltcheva, Velina and Tournev, Ivailo and Auer-Grumbach, Michaela and De Rijk, Peter and Petersen, Britt-Sabina and Muller, Thomas and Fransen, Erik and Van Damme, Philip and Loscher, N. Wolfgang and Bari\v{s}i\'{c}, Nina and Mitrovi\'{c}, Zoran and Previtali, C. Stefano and Topaloglu, Haluk and Bernert, Gunther and Beleza-Meireles, Ana and Todorovi\'{c}, Slobodanka and Savi\'{c}-Pavi\v{c}evi\'{c}, Du\v{s}anka and Ishpekova, Boryana and Lechner, Silvia and Peeters, Kristien and Ooms, Tinne and Hahn, F. Angelika and Zuchner, Stephen and Timmerman, Vincent and Van Dijck, Patrick and Mili\'{c} Ra\v{s}i\'{c}, Vedrana and Janecke, R. Andreas and De Jonghe, Peter and Jordanova, Albena}, year = {2012}, pages = {1080-1083}, DOI = {10.1038/ng.2406}, keywords = {generated lysyl-adenylate, histidine, supports, mice}, journal = {Nature genetics}, doi = {10.1038/ng.2406}, volume = {44}, number = {10}, issn = {1061-4036}, title = {Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia}, keyword = {generated lysyl-adenylate, histidine, supports, mice} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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  • MEDLINE
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