Publications

“Single and dual vector gene therapy with AAV9-PHPB.B rescues hearing in Tmc1 mutant mice”. Wu et al. Molecular Therapy 2021. https://infoscience.epfl.ch/record/285809

2024

TNFα prevents FGF4-mediated rescue of astrocyte dysfunction and reactivity in human ALS models

E. Velasquez; E. Savchenko; S. Marmolejo-Martínez-Artesero; D. Challuau; A. Aebi et al. 

Neurobiology of Disease. 2024. Vol. 201. DOI : 10.1016/j.nbd.2024.106687.

Single-cell and spatial atlases of spinal cord injury in the Tabulae Paralytica

M. A. Skinnider; M. Gautier; A. Y. Y. Teo; C. Kathe; T. H. Hutson et al. 

Nature. 2024. Vol. 631, num. 8019, p. 150 – 163. DOI : 10.1038/s41586-024-07504-y.

Production and Purification of Adeno-Associated Viral Vectors (AAVs) Using Orbitally Shaken HEK293 Cells

J-P. Gaudry; A. Aebi; P. Valdés; B. Schneider 

Recombinant Protein Expression in Mammalian Cells; Humana Press, 2024. p. 55 – 74.

2023

Long term peripheral AAV9-SMN gene therapy promotes survival in a mouse model of spinal muscular atrophy

A. Reilly; R. Yaworski; A. Beauvais; B. L. Schneider; R. Kothary 

Human Molecular Genetics. 2023. DOI : 10.1093/hmg/ddad202.

Stable isotope labeling and ultra-high-resolution NanoSIMS imaging reveal alpha-synuclein-induced changes in neuronal metabolism in vivo

S. Spataro; B. Maco; S. Escrig; L. Jensen; L. Polerecky et al. 

Acta Neuropathologica Communications. 2023. Vol. 11, num. 1, p. 157. DOI : 10.1186/s40478-023-01608-8.

AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn(2B/-) spinal muscular atrophy mice

S. J. Brown; D. Soltic; S. A. Synowsky; S. L. Shirran; E. Chilcott et al. 

Human Molecular Genetics. 2023. DOI : 10.1093/hmg/ddad121.

The role of the NF-kappaB pathway in Amyotrophic lateral sclerosis pathogenesis

E. C. Källstig / B. Schneider; B. D. McCabe (Dir.)  

Lausanne, EPFL, 2023. 

2022

Gene therapy against amyotrophic lateral sclerosis: a bicistronic AAV vector for RNAi against mutated SOD1

P. Valdes; P. Colin; J. P. Gaudry; A. Aebi; B. L. Schneider 

2022. 29th Annual Congress of the European-Society-of-Gene-and-Cell-Therapy (ESCGT), Edinburgh, SCOTLAND, Oct 11-14, 2022. p. A89 – A89.

Central and peripheral delivered AAV9-SMN are both efficient but target different pathomechanisms in a mouse model of spinal muscular atrophy

A. Reilly; M-O. Deguise; A. Beauvais; R. Yaworski; S. Thebault et al. 

Gene Therapy. 2022. DOI : 10.1038/s41434-022-00338-1.

Astrocyte-targeting RNA interference against mutated superoxide dismutase 1 induces motoneuron plasticity and protects fast-fatigable motor units in a mouse model of amyotrophic lateral sclerosis

C. Rochat; N. Bernard-Marissal; E. Kaellstig; S. Pradervand; F. E. Perrin et al. 

Glia. 2022. DOI : 10.1002/glia.24140.

Dopamine and Methamphetamine Differentially Affect Electron Transport Chain Complexes and Parkin in Rat Striatum: New Insight into Methamphetamine Neurotoxicity

V. Bazylianska; A. Sharma; H. Chauhan; B. Schneider; A. Moszczynska 

International Journal Of Molecular Sciences. 2022. Vol. 23, num. 1, p. 363. DOI : 10.3390/ijms23010363.

2021

The exercise-induced long noncoding RNA CYTOR promotes fast-twitch myogenesis in aging

M. Wohlwend; P-P. Laurila; K. William; M. Romani; T. Lima et al. 

Science Translational Medicine. 2021. Vol. 13, num. 623, p. eabc7367. DOI : 10.1126/scitranslmed.abc7367.

Proteins associated with the sarcomere and costamere in hearts are dysregulated in two mouse models of spinal muscular atrophy

S. Owen; D. Soltic; S. Synowsky; E. Crompton; R. Yanez-Munoz et al. 

2021.  p. S131 – S132. DOI : 10.1016/j.nmd.2021.07.295.

CSP alpha reduces aggregates and rescues striatal dopamine release in alpha-synuclein transgenic mice

L. Calo; E. Hidari; M. Wegrzynowicz; J. W. Dalley; B. L. Schneider et al. 

Brain. 2021. Vol. 144, p. 1661 – 1669. DOI : 10.1093/brain/awab076.

Parkin regulates drug-taking behavior in rat model of methamphetamine use disorder

A. Sharma; A. Harutyunyan; B. L. Schneider; A. Moszczynska 

Translational Psychiatry. 2021. Vol. 11, num. 1, p. 293. DOI : 10.1038/s41398-021-01387-7.

IL10-and IL35-Secreting MutuDC Lines Act in Cooperation to Inhibit Memory T Cell Activation Through LAG-3 Expression

M. M. Koga; A. Engel; M. Pigni; C. Lavanchy; M. Stevanin et al. 

Frontiers In Immunology. 2021. Vol. 12, p. 607315. DOI : 10.3389/fimmu.2021.607315.

SMN Depleted Mice Offer a Robust and Rapid Onset Model of Nonalcoholic Fatty Liver Disease

M-O. Deguise; C. Pileggi; Y. De Repentigny; A. Beauvais; A. Tierney et al. 

Cellular And Molecular Gastroenterology And Hepatology. 2021. Vol. 12, num. 1, p. 354 – +. DOI : 10.1016/j.jcmgh.2021.01.019.

Mitofusin-2 in nucleus accumbens regulates anxiety and depression-like behaviors through mitochondrial and neuronal actions

E. Gebara; O. Zanoletti; S. Ghosal; J. Grosse; B. L. Schneider et al. 

Biological Psychiatry. 2021. Vol. 89, num. 11, p. 1024 – 1026. DOI : 10.1016/j.biopsych.2020.12.003.

2020

Anti-Aβ antibodies bound to neuritic plaques enhance microglia activity and mitigate tau pathology

V. Laversenne; S. Nazeeruddin; E. C. Källstig; P. Colin; C. Voize et al. 

Acta Neuropathologica Communications. 2020. Vol. 8, num. 1, p. 198. DOI : 10.1186/s40478-020-01069-3.

Efficient viral transduction in mouse inner ear hair cells with utricle injection and AAV9-PHP.B

J. Lee; C. Nist-Lund; P. Solanes; H. Goldberg; J. Wu et al. 

Hearing Research. 2020. Vol. 394, p. 107882. DOI : 10.1016/j.heares.2020.107882.

Nano-imaging trace elements at organelle levels in substantia nigra overexpressing alpha-synuclein to model Parkinson’s disease

L. Lemelle; A. Simionovici; P. Colin; G. Knott; S. Bohic et al. 

Communications Biology. 2020. Vol. 3, num. 1, p. 364. DOI : 10.1038/s42003-020-1084-0.

Glutaredoxin 1 Downregulation in the Substantia Nigra Leads to Dopaminergic Degeneration in Mice

A. Verma; A. Ray; D. Bapat; L. Diwakar; R. P. Kommaddi et al. 

Movement Disorders. 2020. Vol. 45, num. 10, p. 1843 – 1853. DOI : 10.1002/mds.28190.

Blood Flow to the Spleen is Altered in a Mouse Model of Spinal Muscular Atrophy

M-O. Deguise; A. Beauvais; B. L. Schneider; R. Kothary 

Journal Of Neuromuscular Diseases. 2020. Vol. 7, num. 3, p. 315 – 322. DOI : 10.3233/JND-200493.

2019

Glutaredoxin1 Diminishes Amyloid Beta-Mediated Oxidation of F-Actin and Reverses Cognitive Deficits in an Alzheimer’s Disease Mouse Model

R. P. Kommaddi; D. S. Tomar; S. Karunakaran; D. Bapat; S. Nanguneri et al. 

Antioxidants & Redox Signaling. 2019. 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 delivery

B. Gyorgy; C. Nist-Lund; B. Pan; Y. Asai; K. D. Karavitaki et al. 

2019. 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 mice

P. Solanes; S. Spataro; Y. Asai; B. Pan; C. A. Nist-Lund et al. 

2019. 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 loss

B. Gyorgy; C. Nist-Lund; B. Pan; Y. Asai; K. D. Karavitaki et al. 

Nature Medicine. 2019. Vol. 25, num. 7, p. 1123 – 1130. DOI : 10.1038/s41591-019-0500-9.

Evolution of the neurochemical profiles in the G93A-SOD1 mouse model of amyotrophic lateral sclerosis

H. Lei; E. A. Dirren; C. Poitry-Yamate; B. Schneider; R. Gruetter et al. 

Journal of Cerebral Blood Flow and Metabolism. 2019. Vol. 39, num. 7, p. 1283 – 1298. DOI : 10.1177/0271678X18756499.

Scalable Production of AAV Vectors in Orbitally Shaken HEK293 Cells

D. Blessing; G. Vachey; C. Pythoud; M. Rey; V. Padrun et al. 

Molecular Therapy-Methods & Clinical Development. 2019. Vol. 13, p. 14 – 26. DOI : 10.1016/j.omtm.2018.11.004.

The RNA-Binding Protein PUM2 Impairs Mitochondrial Dynamics and Mitophagy During Aging

D. D’Amico; A. Mottis; F. Potenza; V. Sorrentino; H. Li et al. 

Molecular Cell. 2019. Vol. 73, num. 4, p. 775 – 787.e10. DOI : 10.1016/j.molcel.2018.11.034.

Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy

N. Bernard-Marissal; G. van Hameren; M. Juneja; C. Pellegrino; L. Louhivuori et al. 

Proceedings Of The National Academy Of Sciences Of The United States Of America. 2019. Vol. 116, num. 6, p. 2328 – 2337. DOI : 10.1073/pnas.1810932116.

Compositions and methods for delivering nucleic acids to cochlear and vestibular cells

J. R. Holt; Y. Asai; P. A. Solanes Vega; B. Schneider 

JP7430652; JP2024012440; EP3762040; JP2021519609; CN112423791; EP3762040; US2020392516; CA3093490; WO2019173367.

2019.

A viral vector based in vivo model of tauopathy to explore therapeutic strategies against tau pathology

S. M. K. Nazeeruddin / B. Schneider; P. Aebischer (Dir.)  

Lausanne, EPFL, 2019. 

Application of anti-amyloid beta immunization using encapsulated cell technology in mouse models of Alzheimer’s disease

V. Laversenne / B. Schneider; P. Aebischer (Dir.)  

Lausanne, EPFL, 2019. 

2018

An miRNA-based gene therapy approach to target mutated SOD1 in key cell types in amyotrophic lateral sclerosis (ALS)

V. Vilmont; J. Aebischer; C. Rochat; B. L. Schneider 

2018. 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 development

M. Bowerman; L. M. Murray; F. Scamps; B. L. Schneider; R. Kothary et al. 

European Journal Of Medical Genetics. 2018. 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 Delivery

P. Solanes; B. Pan; P. Aebischer; J. R. Holt; B. Schneider 

2018. 21st Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), Chicago, IL, May 16-19, 2018. p. 138 – 139.

Endoplasmic reticulum and mitochondria in diseases of motor and sensory neurons: a broken relationship?

N. Bernard-Marissal; R. Chrast; B. Schneider 

Cell Death & Disease. 2018. Vol. 9, p. 333. DOI : 10.1038/s41419-017-0125-1.

PM20D1 is a quantitative trait locus associated with Alzheimer’s disease

J. V. Sanchez-Mut; H. Heyn; B. A. Silva; L. Dixsaut; P. Garcia-Esparcia et al. 

Nature 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 brain

A. P. T. Nguyen; G. Daniel; P. Valdés; M. S. Islam; B. L. Schneider et al. 

2018.  p. 120 – 134. DOI : 10.1093/hmg/ddx389.

Exogenous LRRK2(G2019S) induces parkinsonian-like pathology in a nonhuman primate

N. Mestre-Frances; N. Serratrice; A. Gennetier; G. Devau; S. Cobo et al. 

JCI INSIGHT. 2018. Vol. 3, num. 14, p. e98202. DOI : 10.1172/jci.insight.98202.

Encapsulation device

A. Lathuilière; N. Bouche; B. Schneider 

JP6417023; JP2018083819.

2018.

Cortico–reticulo–spinal circuit reorganization enables functional recovery after severe spinal cord contusion

L. Asboth; L. Friedli; J. Beauparlant; C. Martinez-Gonzalez; S. Anil et al. 

Nature Neuroscience. 2018. Vol. 21, num. 4, p. 576 – 588. DOI : 10.1038/s41593-018-0093-5.

PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease

M. Juneja; A. Azmi; J. Baets; A. Roos; M. Jennings et al. 

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2018. Vol. 89, num. 8, p. 870 – 878. DOI : 10.1136/jnnp-2017-317562.

2017

In vivo neurochemical measurements in cerebral tissues using a droplet-based monitoring system

G. Petit-Pierre; P. Colin; E. Laurer; J. Déglon; A. Bertsch et al. 

Nature Communications. 2017. Vol. 8, num. 1, p. 1239. DOI : 10.1038/s41467-017-01419-1.

Bicistronic aav vector for rna interference in als

J. Aebischer; B. Schneider; C. Rochat 

US11872290; HUE057809; EP4008789; ES2896181; SI3325632; PL3325632; LT3325632; PT3325632; DK3325632; EP3325632; US2021052744; US10835621; US2018228919; EP3325632; WO2017013252; EP3121284.

2017.

Validation of Scalable and Compliant AAV Production

D. R. Blessing; G. Vachey; B. Schneider; F. M. Wurm; N. Deglon 

2017. 20th Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), Washington, DC, MAY 10-13, 2017. p. 326 – 326.

Parkin functionally interacts with PGC-1 proportional to to preserve mitochondria and protect dopaminergic neurons

L. Zheng; N. Bernard-Marissal; N. Moullan; D. D’Amico; J. Auwerx et al. 

Human Molecular Genetics. 2017. Vol. 26, num. 3, p. 582 – 598. DOI : 10.1093/hmg/ddw418.

AAV based gene therapy for rare diseases : targeting astrocytes for functional recovery in Amyotrophic Lateral Sclerosis

C. C. Rochat / P. Aebischer; B. Schneider (Dir.)  

Lausanne, EPFL, 2017.