Structural insights into Charcot–Marie–Tooth disease‐linked mutations in human GDAP1

Autor: Aleksi Sutinen, Giang Thi Tuyet Nguyen, Arne Raasakka, Gopinath Muruganandam, Remy Loris, Emil Ylikallio, Henna Tyynismaa, Luca Bartesaghi, Salla Ruskamo, Petri Kursula

Publikováno v: FEBS Open Bio, Vol 12, Iss 7, Pp 1306-1324 (2022)

Charcot–Marie–Tooth disease (CMT) is the most common inherited peripheral polyneuropathy in humans, and its different subtypes are linked to mutations in dozens of different genes. Mutations in ganglioside‐induced differentiation‐associated p

Externí odkaz: https://doaj.org/article/4e1bc0752cf64ca19c72433a691f3831

PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis

Autor: Luca Bartesaghi, Yiqiao Wang, Paula Fontanet, Simone Wanderoy, Finja Berger, Haohao Wu, Natalia Akkuratova, Filipa Bouçanova, Jean-Jacques Médard, Charles Petitpré, Mark A. Landy, Ming-Dong Zhang, Philip Harrer, Claudia Stendel, Rolf Stucka, Marina Dusl, Maria Eleni Kastriti, Laura Croci, Helen C. Lai, Gian Giacomo Consalez, Alexandre Pattyn, Patrik Ernfors, Jan Senderek, Igor Adameyko, Francois Lallemend, Saida Hadjab, Roman Chrast

Publikováno v: Cell Reports, Vol 26, Iss 13, Pp 3484-3492.e4 (2019)

Summary: The sensation of pain is essential for the preservation of the functional integrity of the body. However, the key molecular regulators necessary for the initiation of the development of pain-sensing neurons have remained largely unknown. Her

Externí odkaz: https://doaj.org/article/8d3c2ac2ef91434cbeb5846bfc9c9928

Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

Autor: Jenny Carmichael, Federico Zara, Konstantinos Ampatzis, Somayeh Bakhtiari, Sherifa A. Hamed, Roman Chrast, Rolf Stucka, Juliane Müller, Gudrun Nürnberg, Nihal Olgaç Dündar, Erik-Jan Kamsteeg, Shoji Tsuji, Maja Di Rocco, Shazia Maqbool, Francisca Millan, Jonathan Baets, Tine Deconinck, Hanan E. Shamseldin, Tim M. Strom, Marcello Scala, Elham Alehabib, Cara M. Skraban, Isabella Ceccherini, Vincenzo Salpietro, Mohammed Anter Abdelhameed, Filippo M. Santorelli, Michele Iacomino, Peter De Jonghe, Yasuhiro Suzuki, Rossella Pasquariello, Anna Uhrova Meszarosova, James T Peterson, Ahmed Alfares, Yoshihisa Takiyama, Rebecca Schüle, Hossein Darvish, Yinghong Wang, Marta Rusmini, Selina Deschner, Adriana P. Rebelo, Fatima Rahman, Tobias B. Haack, Manuela Wiessner, Changlian Zhu, Matthis Synofzik, Filipa Bouçanova, Carsten Bergmann, Wolfgang Hüttel, Frederic Tran Mau-Them, Pavel Seeman, Elodie Lacaze, Andreas R. Janecke, Richard A. Lewis, Jin Yun Helen Chen, Meng-Yuan Ni, Michaela Auer-Grumbach, Andrea Català-Bordes, Ivana Ricca, Sheng Chih Jin, Dieter Gläser, Rita Horvath, Maryam Najafi, Jamileh Rezazadeh Varaghchi, Henry Houlden, Bart P.C. van de Warrenburg, Katheryn Grand, Gökhan Uyanik, Jan Senderek, Jean-Jacques Médard, Özgür Duman, Andrea Pedroni, Willem De Ridder, Reza Maroofian, Saghar Ghasemi Firouzabadi, Michael C. Kruer, H. Küpper, Emmanuelle Schmitt, Alistair T. Pagnamenta, Mary J H Willis, Kaya Bilguvar, Majid Alfadhel, Jonathan De Winter, Stephan Züchner, Saeed Al Tala, Hwei-Jen Lee, John M. Graham, Amy Goldstein, Ruben Portier, Stephanie Efthymiou, Yiran Xu, Ludger Schöls, Christian Beetz, Maria Gabriela Otero, Nicholas W. Wood, Najwa Anwar, Martin Kuchar, Fowzan S. Alkuraya, Tyler Mark Pierson, David Dredge, Nourelhoda A Haridy, Laetitia Lambert, Hiroyuki Ishiura, Peter Nürnberg, Luca Bartesaghi, Kishin Koh, Haitian Nan

Publikováno v: Brain

Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biall

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63c62b3f0a5a44914619f38830ad9f5e
https://pubmed.ncbi.nlm.nih.gov/33970200

Disrupted function of lactate transporter MCT1, but not MCT4, in Schwann cells affects the maintenance of motor end-plate innervation

Autor: Carlos Morado Urbina, Katalin Sandor, Gill Pollmeier, Luca Bartesaghi, Luc Pellerin, Jean-Jacques Médard, Eva Hedlund, Roman Chrast, Camilla I. Svensson, Jik Nijssen, Filipa Bouçanova

Publikováno v: Glia
Glia, Wiley, 2021, 69 (1), pp.124-136. ⟨10.1002/glia.23889⟩

Recent studies in neuron-glial metabolic coupling have shown that, in the CNS, astrocytes and oligodendrocytes support neurons with energy-rich lactate/pyruvate via monocarboxylate transporters (MCTs). The presence of such transporters in the PNS, in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ca51d52f765a742c91cd040da242780
https://pubmed.ncbi.nlm.nih.gov/32686211

PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis

Autor: Ming-Dong Zhang, Helen C. Lai, Francois Lallemend, Roman Chrast, Igor Adameyko, Jan Senderek, Marina Dusl, Luca Bartesaghi, Philip Harrer, Paula Fontanet, Claudia Stendel, Charles Petitpré, Alexandre Pattyn, Haohao Wu, Filipa Bouçanova, Maria Eleni Kastriti, Jean-Jacques Médard, Finja Berger, Mark A. Landy, Yiqiao Wang, Patrik Ernfors, Rolf Stucka, Natalia Akkuratova, Saida Hadjab, Laura Croci, Simone Wanderoy, G. Giacomo Consalez

Publikováno v: Cell Reports
Cell Reports, Vol 26, Iss 13, Pp 3484-3492.e4 (2019)
Cell reports

SUMMARY The sensation of pain is essential for the preservation of the functional integrity of the body. However, the key molecular regulators necessary for the initiation of the development of pain-sensing neurons have remained largely unknown. Here

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b41939ec1a89e6600f3b1275a0d21617