The structure of the high-affinity nickel-binding site in the Ni,Zn-HypA•UreE2 complex

Autor: Barbara Zambelli, Priyanka Basak, Heidi Hu, Mario Piccioli, Francesco Musiani, Valquiria Broll, Lionel Imbert, Jerome Boisbouvier, Michael J Maroney, Stefano Ciurli

Publikováno v: Metallomics
Metallomics, 2023, 15 (3), ⟨10.1093/mtomcs/mfad003⟩

The maturation pathway for the nickel-dependent enzyme urease utilizes the protein UreE as a metallochaperone to supply Ni(II) ions. In Helicobacter pylori urease maturation also requires HypA and HypB, accessory proteins that are commonly associated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27cd2b6e5ed1d1760ddf69f20a666865
https://doi.org/10.1093/mtomcs/mfad003

Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment

Autor: Soumeya Bekri, Olfa Messaoud, Cherine Charfeddine, Hela Boudabbous, Amel Tounsi, Meriem Hechmi, Lotfi Zekri, Rahma Mkaouar, Ghazi Besbes, Ahlem Ben Hmid, Christine Petit, R. M’rad, Neji Tebib, Sami Bouchoucha, Fabrice Giraudet, Rym Kefi, J. Marrakchi, Crystel Bonnet, Imen Chelly, Ichraf Kraoua, Hamza Dallali, Ilhem Turki Ben Youssef, Sonia Abdelhak, Nadia Zitouna, Zied Riahi, Sonia Maalej, Mediha Trabelsi

Publikováno v: PLoS ONE
PLoS ONE, 2021, 16 (10), pp.e0258202. ⟨10.1371/journal.pone.0258202⟩
PLoS ONE, Vol 16, Iss 10, p e0258202 (2021)

Alpha-Mannosidosis (AM) is an ultra-rare storage disorder caused by a deficiency of lysosomal alpha-mannosidase encoded by the MAN2B1 gene. Clinical presentation of AM includes mental retardation, recurrent infections, hearing loss, dysmorphic featur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f10eed9fa8dee83d1c67ef18ba710098
https://hal-pasteur.archives-ouvertes.fr/pasteur-04072687

Novel CCM2 missense variants abrogating the CCM1–CCM2 interaction cause cerebral cavernous malformations

Autor: Florence Riant, Françoise Bergametti, Paul Petit, Christian Denier, Aurélien Nouet, Annabelle Chaussenot, Géraldine Viot, Elisabeth Tournier-Lasserve, François Viallet, Dominique Hervé, Marie Pierre Brechard, Christophe Verny, Pierre Labauge

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2020, 57 (6), pp.400-404. ⟨10.1136/jmedgenet-2019-106401⟩

BackgroundCerebral cavernous malformations (CCMs) are vascular malformations mostly located within the central nervous system. Most deleterious variants are loss of function mutations in one of the three CCM genes. These genes code for proteins that

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b67d71b20ea651f97cb9aff0885a310f
https://hal.umontpellier.fr/hal-03421002

A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

Autor: Guéant, Jean-Louis, Chéry, Céline, Oussalah, Abderrahim, Nadaf, Javad, Coelho, David, Josse, Thomas, Flayac, Justine, Robert, Aurélie, Koscinski, Isabelle, Gastin, Isabelle, Filhine-Tresarrieu, Pierre, Pupavac, Mihaela, Brebner, Alison, Watkins, David, Pastinen, Tomi, Montpetit, Alexandre, Hariri, Fadi, Tregouët, David, Raby, Benjamin A, Chung, Wendy K., Morange, Pierre-Emmanuel, Froese, D. Sean, Baumgartner, Matthias R., Benoist, Jean-François, Ficicioglu, Can, Marchand, Virginie, Motorin, Yuri, Bonnemains, Chrystèle, Feillet, François, Majewski, Jacek, Rosenblatt, David S.

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Nature Communications
Nature Communications, 2018, 9 (1), pp.67. ⟨10.1038/s41467-017-02306-5⟩
Nature Communications, Nature Publishing Group, 2018, 9 (1), pp.67. ⟨10.1038/s41467-017-02306-5⟩

To date, epimutations reported in man have been somatic and erased in germlines. Here, we identify a cause of the autosomal recessive cblC class of inborn errors of vitamin B12 metabolism that we name “epi-cblC”. The subjects are compound heteroz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0754f21f129d67519bccad352a828279
https://doaj.org/article/cbd6be2fd8e245cb84a21aa02a029651

Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case

Autor: Najla Soyah, Khouloud Rjiba, Ali Saad, Soumaya Mougou-Zerelli, Ken McElreavey, Molka Kammoun, Imen Hadj Hmida

Publikováno v: European Journal of Medical Genetics
European Journal of Medical Genetics, 2021, 64 (9), pp.104285. ⟨10.1016/j.ejmg.2021.104285⟩

International audience; Recently, an autosomal recessive disorder including the triad of microcephaly, infantile epileptic encephalopathy, and permanent neonatal diabetes syndrome (MEDS, OMIM#614231) has emerged as a new distinguishing syndrome. Eigh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f94f7517d50961c7572378b7bce179d3
https://doi.org/10.1016/j.ejmg.2021.104285