Concept
Adeno-associated virus
Related publications (63)
Rescue of secretion of rare-disease-associated misfolded mutant glycoproteins in UGGT1 knock-out mammalian cells
Endoplasmic reticulum (ER) retention of misfolded glycoproteins is mediated by the ER-localized eukaryotic glycoprotein secretion checkpoint, UDP-glucose glycoprotein glucosyl-transferase (UGGT). The enzyme recognizes a misfolded glycoprotein and flags it ...
Hoboken2024Efficient viral transduction in mouse inner ear hair cells with utricle injection and AAV9-PHP.B
Bernard Schneider, Paola Andrea Solanes Vega
Viral delivery of exogenous coding sequences into the inner ear has the potential for therapeutic benefit for patients suffering genetic or acquired hearing loss. To devise improved strategies for viral delivery, we investigated two injection techniques, r ...
2020Dopaminergic neurodegeneration induced by Parkinson's disease-linked G2019S LRRK2 is dependent on kinase and GTPase activity
Elpida Tsika, Darren Moore, Xi Chen
Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common cause of late-onset, autosomal-dominant familial Parkinson's disease (PD). LRRK2 functions as both a kinase and GTPase, and PD-linked mutations are known to influence both enzymatic acti ...
NATL ACAD SCIENCES2020Delivery of CRISPR/Cas9 using AAV-PHP.B in the inner ear leads to allele-specific inactivation of the mutated Tmc1 allele and protects auditory function in Beethoven mice
Bernard Schneider, Paola Andrea Solanes Vega, Sofia Carmen Suzanne Spataro
Hearing Loss (HL) is the most prevalent sensorineural disorder, affecting 360 million people worldwide. As genetic causes lead to 50% of pre-lingual deafness, gene therapy is considered as a potential therapeutic strategy. Mutations in the TMC1 gene are li ...
MARY ANN LIEBERT, INC2019Optogenetic Peripheral Nerve Immunogenicity
Optogenetic technologies have been the subject of great excitement within the scientific community for their ability to demystify complex neurophysiological pathways in the central (CNS) and peripheral nervous systems (PNS). The excitement surrounding opto ...
Nature Publishing Group2018CRX-linked macular dystrophy with intrafamilial variable expressivity
Background: We present a macular dystrophy of differing severity in a single kindred caused by a heterozygous nonsense mutation in CRX. Case report: A 21 year old Caucasian male from a Swiss family was investigated for decreasing central visual acuity asso ...
TAYLOR & FRANCIS INC2018