Glutaredoxin 1 Downregulation in the Substantia Nigra Leads to Dopaminergic Degeneration in MiceMovement Disorders. 2020-07-03. DOI : 10.1002/mds.28190.
Glutaredoxin1 Diminishes Amyloid Beta-Mediated Oxidation of F-Actin and Reverses Cognitive Deficits in an Alzheimer’s Disease Mouse ModelAntioxidants & Redox Signaling. 2019-12-20. Vol. 31, num. 18, p. 1321-1338. DOI : 10.1089/ars.2019.7754.
Allele-specific gene disruption through discrimination of a single base change by S. aureus Cas9-KKH prevents progressive hearing loss after AAV-mediated gene delivery2019-11-01. ESGCT 27th Annual Congress in collaboration with SETGyc Meeting, Barcelona, SPAIN, Oct 22-25, 2019. p. A11-A12.
Delivery 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 mice2019-11-01. ESGCT 27th Annual Congress in collaboration with SETGyc Meeting, Barcelona, SPAIN, Oct 22-25, 2019. p. A106-A107.
Allele-specific gene editing prevents deafness in a model of dominant progressive hearing lossNature Medicine. 2019-07-01. Vol. 25, num. 7, p. 1123-+. DOI : 10.1038/s41591-019-0500-9.
The RNA-Binding Protein PUM2 Impairs Mitochondrial Dynamics and Mitophagy During AgingMolecular Cell. 2019-02-21. Vol. 73, num. 4, p. 775-+. DOI : 10.1016/j.molcel.2018.11.034.
Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathyProceedings Of The National Academy Of Sciences Of The United States Of America. 2019-02-05. Vol. 116, num. 6, p. 2328-2337. DOI : 10.1073/pnas.1810932116.
Compositions and methods for delivering nucleic acids to cochlear and vestibular cells
Cas9/gRNA selective targeting of the Beethoven tmc-1 mutant allele for treating progressive hearing loss by AAV-based delivery2018-12-01. Conference on Changing the Face of Modern Medicine – Stem Cell and Gene Therapy, Lausanne, SWITZERLAND, Oct 16-19, 2018. p. A107-A108.
An miRNA-based gene therapy approach to target mutated SOD1 in key cell types in amyotrophic lateral sclerosis (ALS)2018-12-01. Conference on Changing the Face of Modern Medicine – Stem Cell and Gene Therapy, Lausanne, SWITZERLAND, Oct 16-19, 2018. p. A80-A80.
Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: Converging roads to therapeutic developmentEuropean Journal Of Medical Genetics. 2018-11-01. Vol. 61, num. 11, p. 685-698. DOI : 10.1016/j.ejmg.2017.12.001.
Cas9/gRNAs Selective Targeting of the Beethoven Tmc-1 Mutant Allele for Treating Progressive Hearing Loss by AAV-Based Delivery2018-05-01. 21st Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), Chicago, IL, May 16-19, 2018. p. 138-139.
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth diseaseJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2018. Vol. 89, num. 8, p. 870-878. DOI : 10.1136/jnnp-2017-317562.
Exogenous LRRK2(G2019S) induces parkinsonian-like pathology in a nonhuman primateJCI INSIGHT. 2018. Vol. 3, num. 14, p. e98202. DOI : 10.1172/jci.insight.98202.
Cortico–reticulo–spinal circuit reorganization enables functional recovery after severe spinal cord contusionNature Neuroscience. 2018. Vol. 21, num. 4, p. 576-588. DOI : 10.1038/s41593-018-0093-5.
PM20D1 is a quantitative trait locus associated with Alzheimer’s diseaseNature Medicine. 2018. Vol. 24, num. 5, p. 598-603. DOI : 10.1038/s41591-018-0013-y.
G2019S LRRK2 enhances the neuronal transmission of tau in the mouse brain2018-01-01. p. 120-134. DOI : 10.1093/hmg/ddx389.
Validation of Scalable and Compliant AAV Production2017. 20th Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), Washington, DC, MAY 10-13, 2017. p. 326-326.
Bicistronic aav vector for rna interference in als
US2018228919; EP3325632; WO2017013252; EP3121284.2017.
Parkin functionally interacts with PGC-1 proportional to to preserve mitochondria and protect dopaminergic neuronsHuman Molecular Genetics. 2017. Vol. 26, num. 3, p. 582-598. DOI : 10.1093/hmg/ddw418.
EP2988699; CN105142570; JP6325649; US9950149; US2016184569; JP2016516827; EP2988699; CN105142570; WO2014173441.2016.