Lionel Van Maldergem
University of Franche-Comté
138 Papers
501 Citations
Lionel Van Maldergem is an academic researcher from University of Franche-Comté. The author has contributed to research in topics: Biology & Medicine. The author has an hindex of 47, co-authored 126 publications. Previous affiliations of Lionel Van Maldergem include University of Liège.
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Papers
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
Jocelyne Magré,Marc Delepine,Eliane Khallouf,Tobias Gedde-Dahl,Lionel Van Maldergem,Eric M. Sobel,Jeanette C. Papp,Muriel Meier,André Mégarbané,A. Bachy,Alain Verloes,F. H. D'abronzo,E. Seemanova,Roger Assan,N. Baudic,Bourut C,Paul Czernichow,Frédéric Huet,Florin Grigorescu,M. De Kerdanet,Didier Lacombe,Philippe Labrune,M. Lanza,H. Loret,Fumihiko Matsuda,J. Navarro,A. Nivelon-Chevalier,Meraida Polak,J.-J. Robert,P. Tric,N. Tubiana-Rufi,Corinne Vigouroux,Jean Weissenbach,S. Savasta,J. A. Maassen,O. Trygstad,P. Bogalho,P. Freitas,J. L. Medina,F. Bonnicci,Barry I Joffe,G. Loyson,Vanessa R. Panz,Frederick J. Raal,Stephen O'Rahilly,T. Stephenson,C R Kahn,Mark Lathrop,Jacqueline Capeau +48 more
TL;DR: A genome screen of nine BSCL families from two geographical clusters revealed mutations in a gene homologous to the murine guanine nucleotide-binding protein, γ3-linked gene (Gng3lg) in all BSCL2-linked families, of general importance for understanding the molecular mechanisms underlying regulation of body fat distribution and insulin resistance.
760
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
Max A. Tischfield,Hagit N. Baris,Chen Wu,G. Rudolph,Lionel Van Maldergem,Wei He,Wai-Man Chan,Caroline Andrews,Joseph L. Demer,Richard L. Robertson,David A. Mackey,David A. Mackey,Jonathan B Ruddle,Thomas D. Bird,Irene Gottlob,Christina Pieh,Elias I. Traboulsi,Scott L. Pomeroy,David G. Hunter,Janet S. Soul,Janet S. Soul,Anna Newlin,Louise J. Sabol,Edward J. Doherty,Clara E. de Uzcategui,Nicolas Uzcategui,Mary Louise Z. Collins,Emin Cumhur Sener,Bettina Wabbels,Heide Hellebrand,Thomas Meitinger,Teresa de Berardinis,Adriano Magli,Costantino Schiavi,Marco Pastore-Trossello,Feray Koc,Agnes M. F. Wong,Alex V. Levin,Michael T. Geraghty,Maria Descartes,Maree Flaherty,Robyn V. Jamieson,Robyn V. Jamieson,Hans Ulrik Møller,Ingo Meuthen,David F. Callen,Janet Kerwin,Susan Lindsay,Alfons Meindl,Mohan L. Gupta,David Pellman,Elizabeth C. Engle +51 more
TL;DR: It is demonstrated that normal TUBB3 is required for axon guidance and maintenance in mammals and it is shown that the disease-associated mutations can impair tubulin heterodimer formation in vitro, although folded mutant heterodimers can still polymerize into microtubules.
600
GJB2 mutations and degree of hearing loss: a multicenter study.
Rikkert L. Snoeckx,Patrick L. M. Huygen,Delphine Feldmann,Sandrine Marlin,Françoise Denoyelle,Jaroslaw Waligora,Małgorzata Mueller-Malesińska,Agneszka Pollak,Rafał Płoski,Alessandra Murgia,Eva Orzan,Pierangela Castorina,Umberto Ambrosetti,Ewa Nowakowska-Szyrwinska,Jerzy Bal,Wojciech Wiszniewski,Andreas R. Janecke,Doris Nekahm-Heis,Pavel Seeman,O. Bendová,Margaret A. Kenna,Anna Frangulov,Heidi L. Rehm,Mustafa Tekin,Armagan Incesulu,Hans Henrik M. Dahl,Desirée du Sart,Lucy Jenkins,Deirdre Lucas,Maria Bitner-Glindzicz,Karen B. Avraham,Zippora Brownstein,Ignacio del Castillo,Felipe Moreno,Nikolaus Blin,Markus Pfister,István Sziklai,Tímea Tóth,Philip M. Kelley,Edward S. Cohn,Lionel Van Maldergem,Pascale Hilbert,Anne Françoise Roux,Michel Mondain,Lies H. Hoefsloot,Cor W. R. J. Cremers,Tuija Löppönen,Heikki Löppönen,Agnete Parving,Karen Grønskov,Iris Schrijver,Joseph B. Roberson,Francesca Gualandi,Alessandro Martini,Geneviève Lina-Granade,Nathalie Pallares-Ruiz,Céu Correia,Graça Fialho,Kim Cryns,Nele Hilgert,Paul Van de Heyning,Carla Nishimura,Richard J.H. Smith,Guy Van Camp +63 more
TL;DR: The association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations was assessed and two genotypes had significantly more-severe HI than that of 35delG homozygotes.
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Sabine Endele,Georg Rosenberger,Kirsten Geider,Bernt Popp,Ceyhun Tamer,Irina Stefanova,Mathieu Milh,Fanny Kortüm,Angela Fritsch,Friederike K. Pientka,Friederike K. Pientka,Yorck Hellenbroich,Vera M. Kalscheuer,Jürgen Kohlhase,Ute Moog,Gudrun A. Rappold,Anita Rauch,Anita Rauch,Hans-Hilger Ropers,Sarah von Spiczak,Holger Tönnies,Nathalie Villeneuve,Laurent Villard,Bernhard Zabel,Martin Zenker,Martin Zenker,Bodo Laube,André Reis,Dagmar Wieczorek,Lionel Van Maldergem,Kerstin Kutsche +30 more
TL;DR: It is suggested that disturbances in the neuronal electrophysiological balance during development result in variable neurological phenotypes depending on which NR2 subunit of NMDA receptors is affected.
523
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
Christian Windpassinger,Michaela Auer-Grumbach,Joy Irobi,Heema Patel,Erwin Petek,Gerd Hörl,Roland Malli,Johanna A. Reed,Ines Dierick,Nathalie Verpoorten,Thomas T. Warner,Christos Proukakis,Peter Van den Bergh,Christine Verellen,Lionel Van Maldergem,Luciano Merlini,Peter De Jonghe,Vincent Timmerman,Andrew H. Crosby,Klaus Wagner +19 more
TL;DR: Seipin is an integral membrane protein of the endoplasmic reticulum (ER) and affected glycosylation of seipin and result in aggregate formation leading to neurodegeneration.