Literature DB >> 33714697

AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies.

Huiya Yang1, Robert H Brown2, Dan Wang3, Kevin A Strauss4, Guangping Gao5.   

Abstract

De novo glycosphingolipid (GSL) biosynthesis defects cause severe neurological diseases, including hereditary sensory and autonomic neuropathy type 1A (HSAN1A), GM3 synthase deficiency, and hereditary spastic paraplegia type 26 (HSPG26), each lacking effective treatment. Recombinant adeno-associated virus (AAV)-mediated gene therapy has emerged as a powerful treatment for monogenic diseases and might be particularly suitable for these neurological conditions.
Copyright © 2021 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  adeno-associated virus; gene therapy; glycosphingolipid biosynthesis deficiency

Mesh：

Substances：

Year:  2021        PMID： 33714697      PMCID： PMC8840833          DOI： 10.1016/j.molmed.2021.02.004

Source DB:  PubMed          Journal:  Trends Mol Med        ISSN： 1471-4914            Impact factor:   11.951


  15 in total

Review 1.  Adeno-associated virus vector as a platform for gene therapy delivery.

Authors:  Dan Wang; Phillip W L Tai; Guangping Gao
Journal:  Nat Rev Drug Discov       Date:  2019-05       Impact factor: 84.694

2.  Enhanced insulin sensitivity in mice lacking ganglioside GM3.

Authors:  Tadashi Yamashita; Akira Hashiramoto; Martin Haluzik; Hiroki Mizukami; Shoshannah Beck; Aaron Norton; Mari Kono; Shuichi Tsuji; Jose Luis Daniotti; Norbert Werth; Roger Sandhoff; Konrad Sandhoff; Richard L Proia
Journal:  Proc Natl Acad Sci U S A       Date:  2003-03-10       Impact factor: 11.205

Review 3.  Therapeutic AAV Gene Transfer to the Nervous System: A Clinical Reality.

Authors:  Eloise Hudry; Luk H Vandenberghe
Journal:  Neuron       Date:  2019-03-06       Impact factor: 17.173

Review 4.  Gangliosides: glycosphingolipids essential for normal neural development and function.

Authors:  Cara-Lynne Schengrund
Journal:  Trends Biochem Sci       Date:  2015-05-01       Impact factor: 13.807

5.  Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.

Authors:  Lauren E Bowser; Millie Young; Olivia K Wenger; Zineb Ammous; Karlla W Brigatti; Vincent J Carson; Teresa Moser; James Deline; Kazuhiro Aoki; Thierry Morlet; Ethan M Scott; Erik G Puffenberger; Donna L Robinson; Christine Hendrickson; Jonathan Salvin; Steven Gottlieb; Adam D Heaps; Michael Tiemeyer; Kevin A Strauss
Journal:  Mol Genet Metab       Date:  2019-01-21       Impact factor: 4.797

6.  Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

Authors:  Michael A Simpson; Harold Cross; Christos Proukakis; David A Priestman; David C A Neville; Gabriele Reinkensmeier; Heng Wang; Max Wiznitzer; Kay Gurtz; Argyro Verganelaki; Anna Pryde; Michael A Patton; Raymond A Dwek; Terry D Butters; Frances M Platt; Andrew H Crosby
Journal:  Nat Genet       Date:  2004-10-24       Impact factor: 38.330

7.  Mice lacking complex gangliosides develop Wallerian degeneration and myelination defects.

Authors:  K A Sheikh; J Sun; Y Liu; H Kawai; T O Crawford; R L Proia; J W Griffin; R L Schnaar
Journal:  Proc Natl Acad Sci U S A       Date:  1999-06-22       Impact factor: 11.205

8.  Deficient Ganglioside Biosynthesis: a novel human sphingolipidosis.

Authors:  P H Fishman; S R Max; J F Tallman; R O Brady; N K Maclaren; M Cornblath
Journal:  Science       Date:  1975-01-10       Impact factor: 47.728

9.  Mice lacking ganglioside GM3 synthase exhibit complete hearing loss due to selective degeneration of the organ of Corti.

Authors:  Misato Yoshikawa; Shinji Go; Kotaro Takasaki; Yasuhiro Kakazu; Mitsuru Ohashi; Masakazu Nagafuku; Kazuya Kabayama; Junji Sekimoto; Shun-ichi Suzuki; Kazutaka Takaiwa; Takashi Kimitsuki; Nozomu Matsumoto; Shizuo Komune; Daisuke Kamei; Masaki Saito; Michihiro Fujiwara; Katsunori Iwasaki; Jin-ichi Inokuchi
Journal:  Proc Natl Acad Sci U S A       Date:  2009-05-22       Impact factor: 11.205

10.  MicroRNA-regulated, systemically delivered rAAV9: a step closer to CNS-restricted transgene expression.

Authors:  Jun Xie; Qing Xie; Hongwei Zhang; Stefan L Ameres; Jui-Hung Hung; Qin Su; Ran He; Xin Mu; Seemin Seher Ahmed; Soyeon Park; Hiroki Kato; Chengjian Li; Christian Mueller; Craig C Mello; Zhiping Weng; Terence R Flotte; Phillip D Zamore; Guangping Gao
Journal:  Mol Ther       Date:  2010-12-21       Impact factor: 11.454
View more
  3 in total

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

Authors:  Julian Emanuel Alecu; Yuhsuke Ohmi; Robiul H Bhuiyan; Kei-Ichiro Inamori; Takahiro Nitta; Afshin Saffari; Hellen Jumo; Marvin Ziegler; Claudio Melo de Gusmao; Nutan Sharma; Shiho Ohno; Noriyoshi Manabe; Yoshiki Yamaguchi; Mariko Kambe; Keiko Furukawa; Mustafa Sahin; Jin-Ichi Inokuchi; Koichi Furakawa; Darius Ebrahimi-Fakhari
Journal:  Am J Med Genet A       Date:  2022-07-01       Impact factor: 2.578

Review 2.  Genetic pain loss disorders.

Authors:  Annette Lischka; Petra Lassuthova; Arman Çakar; Christopher J Record; Jonas Van Lent; Jonathan Baets; Maike F Dohrn; Jan Senderek; Angelika Lampert; David L Bennett; John N Wood; Vincent Timmerman; Thorsten Hornemann; Michaela Auer-Grumbach; Yesim Parman; Christian A Hübner; Miriam Elbracht; Katja Eggermann; C Geoffrey Woods; James J Cox; Mary M Reilly; Ingo Kurth
Journal:  Nat Rev Dis Primers       Date:  2022-06-16       Impact factor: 65.038

3.  Upregulation of CCNB2 and Its Perspective Mechanisms in Cerebral Ischemic Stroke and All Subtypes of Lung Cancer: A Comprehensive Study.

Authors:  Ming-Jie Li; Shi-Bai Yan; Gang Chen; Guo-Sheng Li; Yue Yang; Tao Wei; De-Shen He; Zhen Yang; Geng-Yu Cen; Jun Wang; Liu-Yu Liu; Zhi-Jian Liang; Li Chen; Bin-Tong Yin; Ruo-Xiang Xu; Zhi-Guang Huang
Journal:  Front Integr Neurosci       Date:  2022-07-19
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.