AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome

Ndufs4 related Leigh syndrome: A case report and review of the literature

(2016) Juan Darío Ortigoza-Escobar et al.   MITOCHONDRION

Structure of mammalian respiratory complex I

(2016) Jiapeng Zhu et al.   NATURE

Atomic structure of the entire mammalian mitochondrial complex I

(2016) Karol Fiedorczuk et al.   NATURE

Cre-dependent selection yields AAV variants for widespread gene transfer to the adult brain

(2016) Benjamin E Deverman et al.   NATURE BIOTECHNOLOGY

Viral vector-mediated gene therapies

(2015) Katrin Hollinger et al.   CURRENT OPINION IN NEUROLOGY

Architecture of mammalian respiratory complex I

(2014) Kutti R. Vinothkumar et al.   NATURE

Systemic gene delivery to the central nervous system using Adeno-associated virus

(2014) Mathieu Bourdenx et al.   Frontiers in Molecular Neuroscience

Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy

(2012) Ivano Di Meo et al.   EMBO Molecular Medicine

Fatal breathing dysfunction in a mouse model of Leigh syndrome

(2012) Albert Quintana et al.   JOURNAL OF CLINICAL INVESTIGATION

Improved Survival and Reduced Phenotypic Severity Following AAV9/MECP2 Gene Transfer to Neonatal and Juvenile Male Mecp2 Knockout Mice

(2012) Kamal KE Gadalla et al.   MOLECULAR THERAPY

Global gene transfer into the CNS across the BBB after neonatal systemic delivery of single-stranded AAV vectors

(2011) Noriko Miyake et al.   BRAIN RESEARCH

Intravenous administration of AAV2/9 to the fetal and neonatal mouse leads to differential targeting of CNS cell types and extensive transduction of the nervous system

(2011) Ahad A. Rahim et al.   FASEB JOURNAL

Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activity

(2011) M. A. Calvaruso et al.   HUMAN MOLECULAR GENETICS

Retro-orbital injections in mice

(2011) Tal Yardeni et al.   LAB ANIMAL

Mammalian complex I: A regulable and vulnerable pacemaker in mitochondrial respiratory function

(2008) Sergio Papa et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Mice with Mitochondrial Complex I Deficiency Develop a Fatal Encephalomyopathy

(2008) Shane E. Kruse et al.   Cell Metabolism

A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family

(2008) S. L. Anderson et al.   JOURNAL OF INHERITED METABOLIC DISEASE