Rescue of NPC1 protein by the heat shock response amplifier arimoclomol across multiple genotypes
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Nikolaj Havnsøe Torp Petersen, Cathrine K. Fog, Andrea C. Lampp, Anja Koustrup, Thomas Kirkegaard (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Characterizing expressive language skills in children with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2): The caregiver perspective
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Dawn Phillips, Vivian Fernandez, Marie-Laure Nevoret (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Characterizing visual function in children with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2): The caregiver perspective
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Dawn Phillips, Vivian Fernandez, Christina Ohnsman (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Human induced pluripotent stem cell models for CLN6
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Tyler Mark Pierson, Yogesh K. Kushwaha, Maria Gabriela Otero, Phillip J. Kenny, Fabian David Nonis, Jaemin Kim (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Evaluation of the effectiveness of hematopoietic stem cell transplantation in multiple sulfatase deficiency
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Nishitha R. Pillai, Paul J. Orchard, Rebecca Ahrens-Nicklas, Laura Adang, Sarah H. Elsea, Chester B. Whitley (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Busulfan conditioning allows high engraftment of human genome edited hematopoietic stem cells and improved central nervous system correction in a mucopolysaccharidosis type I mouse model
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Edina Poletto, Pasqualina Colella, Adam Sheikali, Guilherme Baldo, Natalia Gomez-Ospina (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Open-label clinical trial of anakinra in mucopolysaccharidosis type III: Interim analysis
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Lynda E. Polgreen, Agnes Chen, Cara O'Neill, Anna Luzzi, Michelina Iacovino, Julie Eisengart (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Examination of a blood-brain barrier targeting β-galactosidase-monoclonal antibody fusion protein in a murine model of GM1-gangliosidosis
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Michael Przybilla, Christine Stewart, Timothy Carlson, Li Ou, Brenda Koniar, Rohini Sidhu, Pamela Kell, Xuntian Jiang, Jeanine R. Jarnes, M. Gerard O'Sullivan, Chester B. Whitley (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
A perspective on research, diagnosis, and management of lysosomal disorders in Colombia: An update
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Maria Alejandra Puentes-Tellez, Paula Andrea Lerma-Barbosa, Rafael Guillermo Garzón-Jaramillo, Diego Suarez, Angela J. Espejo-Mojica, Johana M. Guevara, Olga Yaneth Echeverri, Daniela Solano-Galarzaa, Alfredo Uribe-Ardila, Carlos Javier Alméciga-Díaz (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Repurposing drugs for CLN1 Batten disease: An integrative drug discovery approach
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Ana C. Puhl, Patricia A. Vignaux, Eni Minerali, Jennifer J. Klein, Tammy M. Havener, Edward Anderson, Anthony J. Hickey, Sean Ekins (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Intracisternal administration of AAV9 gene therapies to target the central nervous system
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Bryan Pukenas, Mikhail Papisov, Nicholas Buss, Subha Karumuthil-Melethil, Anthony O'Berry, Kirsten Cowley, Marie-Laure Nevoret, Paulo Falabella (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Population-based newborn screening for mucopolysaccharidosis type II: A single center's experience
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Allegra M. Quadri, Katherine H. Kim, Rachel E. Hickey, Andrea Paras, Joshua Baker, Joel Charrow, Barbara K. Burton (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Update on safety and efficacy results for phase I/II trial of hydroxypropyl betacyclodextrin (HPâCD) administered intravenously in patients with Niemann-Pick disease type C1
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Julian A.J. Raiman, Reena Sharma, Martin Paucar, Orna Staretz-Chacham, Ronen Spiegel, Alan Boyd, Caroline Hastings, Sharon H. Hrynkow (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Migalastat 150 mg every other day achieves bioequivalent exposures in adolescent and adult patients with Fabry disease
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Uma Ramaswami, Cathrine Leonowens, Ozlem Goker-Alpan, William R. Wilcox, Robert J. Hopkin, Amarilis Sanchez-Valle, Virginia Schmith, Nina Skuban, Franklin Johnson (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
Development of a GLA nAb assay with a fully-human, neutralizing IgG4 positive control to characterize antibody response in Fabry disease patients
Publication date: February 2021Source: Molecular Genetics and Metabolism, Volume 132, Issue 2Author(s): Sujata Ravi, Erald Shehu, Jonathan H. Foley, Olivia Allen, Sophie A. Snow, Jey Jeyakumar, Rose Sheridan, Romuald Corbau (Source: Molecular Genetics and Metabolism)
Source: Molecular Genetics and Metabolism - February 2, 2021 Category: Genetics & Stem Cells Source Type: research
