Patient selection considerations for AADC deficiency gene therapy

Autor: Agathe Roubertie, Irina Anselm, Bruria Ben‐Zeev, Wuh‐Liang Hwu, Ashutosh Kumar, Berrin Monteleone, Shin‐ichi Muramatsu, Vincenzo Leuzzi, Salvador Ibáñez, Scellig Stone, Phillip L. Pearl

Publikováno v: Annals of the Child Neurology Society, Vol 2, Iss 1, Pp 53-59 (2024)

Abstract Background Aromatic ʟ‐amino acid decarboxylase (AADC) deficiency is a rare, severe neurological disorder caused by pathogenic variants in the dopa decarboxylase (DDC) gene, resulting in a combined deficiency of monoamine neurotransmitters

Externí odkaz: https://doaj.org/article/deca6b443a2e40fb99fb7e172d08a585

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Autor: Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gecz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celenie K. Christensen, Kerry M. White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch-Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, Frank Kooy, Marije Meuwissen, Alice Basinger, Mary Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond-Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, CAUSES Study, Elena Lopez-Rangel, Paul Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie Vento, Divya Vats, L. Manace Benman, Shane Mckee, Ghayda M. Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen E. H. Simon, Koen L. I. van Gassen, Kara Simpson, Robert Stratton, Sabeen Syed, Julien Thevenon, Irene Valenzuela Palafoll, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, SPARK Consortium, Rachel K. Earl, Tomasz Nowakowski, Raphael A. Bernier, Evan E. Eichler

Publikováno v: Genome Medicine, Vol 13, Iss 1, Pp 1-26 (2021)

Abstract Background With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype–phenotype correlation

Externí odkaz: https://doaj.org/article/8b3afcd6ab86417381f08c0b4a3a4364

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome

Autor: Julia Han, Terry Jo Bichell, Stephanie Golden, Irina Anselm, Susan Waisbren, Carlos A. Bacino, Sarika U. Peters, Lynne M. Bird, Virginia Kimonis

Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)

Abstract Background Angelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13. AS leads to stiff and

Externí odkaz: https://doaj.org/article/a5cc60114c0d4ce894e2152585d752d4

Neurologists Unite for Ukraine: Grassroots Movement Transformed into Lasting Collaboration (P4-8.013)

Autor: Christina BriscoeAbath, Olha Tychkivska, Aristides Hadjinicolaou, Anna Minster, Irina Anselm, Danielle Friedman, Alina Ivaniuk, Elaine Wirrell, Alina Sharinn, Alexander Paciorkowski, Yuliya Snyder, Mike Corcoran, Todd Stone, Ozzy Samad, Agnieszka Kielian, Svetlana Faktorovich

Publikováno v: Monday, April 24.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a8bc3ee32611bd495da0a0cffb29cd44
https://doi.org/10.1212/wnl.0000000000204162

Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease

Autor: Karl L. Kiening, Phillip L. Pearl, David R Compton, Shin-ichi Muramatsu, Agathe Roubertie, Thomas Roujeau, Takeshi Nakajima, Irina Anselm, Paul Wuh-Liang Hwu, Thomas Opladen

Publikováno v: EMBO Molecular Medicine
EMBO Molecular Medicine, Vol 13, Iss 9, Pp n/a-n/a (2021)

This commentary provides an overview of the putamen as an established target site for gene therapy in treating aromatic l‐amino acid decarboxylase (AADC) deficiency and Parkinson’s disease, two debilitating neurological disorders that involve mot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6a586e888537baaf1e2f3d41d69985b
https://pubmed.ncbi.nlm.nih.gov/34423905