Functional validation of novel variants in <scp> <i>B4GALNT1</i> </scp> associated with early‐onset complex hereditary spastic paraplegia with impaired ganglioside synthesis-Reference-Cited by-同舟云学术

Functional validation of novel variants in B4GALNT1 associated with early‐onset complex hereditary spastic paraplegia with impaired ganglioside synthesis

Published:2022-07 Issue:9 Volume:188 Page:2590-2598
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Alecu Julian Emanuel¹^ORCID,Ohmi Yuhsuke²³,Bhuiyan Robiul H.²⁴,Inamori Kei‐ichiro⁵,Nitta Takahiro⁵,Saffari Afshin¹,Jumo Hellen¹,Ziegler Marvin¹,de Gusmao Claudio Melo¹⁶,Sharma Nutan⁷,Ohno Shiho⁸,Manabe Noriyoshi⁸,Yamaguchi Yoshiki⁸,Kambe Mariko²,Furukawa Keiko²,Sahin Mustafa¹⁹¹⁰,Inokuchi Jin‐ichi⁵¹¹,Furakawa Koichi²,Ebrahimi‐Fakhari Darius¹⁶¹⁰¹²^ORCID

Affiliation:

1. Department of Neurology and F.M. Kirby Neurobiology Center Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA

2. Department of Biomedical Sciences Chubu University College of Life and Health Sciences Kasugai Japan

3. Department of Medical Technology Chubu University College of Life and Health Sciences Kasugai Japan

4. Department of Biochemistry and Molecular Biology University of Chittagong Faculty of Biological Sciences Chittagong Bangladesh

5. Division of Glycopathology, Institute of Molecular Biomembrane and Glycobiology Tohoku Medical and Pharmaceutical University Sendai Japan

6. Movement Disorders Program, Department of Neurology Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA

7. Movement Disorders Unit, Department of Neurology Massachusetts General Hospital, Harvard Medical School Boston Massachusetts USA

8. Division of Structural Glycobiology, Institute of Molecular Biomembrane and Glycobiology Tohoku Medical and Pharmaceutical University Sendai Japan

9. Rosamund Stone Zander Translational Neuroscience Center Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA

10. Intellectual and Developmental Disabilities Research Center Boston Children's Hospital Boston Massachusetts USA

11. Core for Medicine and Science Collaborative Research and Education (MS‐CORE), Project Research Center for Fundamental Sciences Osaka University Osaka Japan

12. The Manton Center for Orphan Disease Research Boston Children's Hospital Boston Massachusetts USA

Funder

Deutsche Forschungsgemeinschaft

Deutscher Akademischer Austauschdienst

Japan Agency for Medical Research and Development

Japan Science and Technology Corporation

Japan Society for the Promotion of Science

Manton Center for Orphan Disease Research, Boston Children's Hospital

Ministry of Education, Culture, Sports, Science and Technology

National Institute of Neurological Disorders and Stroke

Spastic Paraplegia Foundation

Studienstiftung des Deutschen Volkes