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Martínez-Pizarro, Ainhoa
279  results:
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1

Regulating PCCA gene expression by modulation of pseudoexon..:

Spangsberg Petersen, Ulrika Simone ; Dembic, Maja ; Martínez-Pizarro, Ainhoa...
Molecular Therapy - Nucleic Acids.  35 (2024)  1 - p. 102101 , 2024
Link: https://doi.org/10.1016/..
 
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2

Functional analysis of novel variants identified in cis in ..:

Martínez-Pizarro, Ainhoa ; Calmels, Nadège ; Schalk, Audrey...
Gene.  893 (2024)  - p. 147902 , 2024
Link: https://doi.org/10.1016/..
 
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3

PAH deficient pathology in humanized c.1066-11G>A phenylket..:

Martínez-Pizarro, Ainhoa ; Picó, Sara ; López-Márquez, Arístides...
Human Molecular Genetics.  33 (2024)  12 - p. 1074-1089 , 2024
Link: https://doi.org/10.1093/..
 
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4

RNA solutions to treat inborn errors of metabolism:

Martinez-Pizarro, Ainhoa ; Desviat, Lourdes R.
Molecular Genetics and Metabolism.  136 (2022)  4 - p. 289-295 , 2022
Link: https://doi.org/10.1016/..
 
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5

Modeling Splicing Variants Amenable to Antisense Therapy by..:

, In: Methods in Molecular Biology; Antisense RNA Design, Delivery, and Analysis,
López-Márquez, Arístides ; Martínez-Pizarro, Ainhoa ; Pérez, Belén.. - p. 167-184 , 2022
Link: https://doi.org/10.1007/..
 
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6

O-GlcNAcylation enhances CPS1 catalytic efficiency for ammo..:

Soria, Leandro R. ; Makris, Georgios ; D'Alessio, Alfonso M....
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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7

Intronic PAH gene mutations cause a splicing defect by a no..:

Martínez-Pizarro, Ainhoa ; Dembic, Maja ; Pérez, Belén...
PLOS Genetics.  14 (2018)  4 - p. e1007360 , 2018
Link: https://doi.org/10.1371/..
 
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8

Endoplasmic Reticulum Stress and Autophagy in Homocystinuri..:

Martínez-Pizarro, Ainhoa ; Desviat, Lourdes R. ; Ugarte, Magdalena...
PLOS ONE.  11 (2016)  3 - p. e0150357 , 2016
Link: https://doi.org/10.1371/..
 
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9

Modeling Splicing Variants Amenable to Antisense Therapy by..:

López-Márquez, Arístides ; Martínez-Pizarro, Ainhoa ; Pérez, Belén..
Methods in Molecular Biology.  , 2024
Link: http://hdl.handle.net/10..
 
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10

Intronic PAH gene mutations cause a splicing defect by a no..:

Martínez-Pizarro, Ainhoa ; Dembic, Maja ; Pérez, Belén..
PLoS Genetics.  , 2023
Link: http://hdl.handle.net/10..
 
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11

Splice shifting oligonucleotides for use in the treatment o..:

Desviat, Lourdes R ; Martínez-Pizarro, Ainhoa ; Lucas, José Javier..
EP4163373 A1 (2023-04-12).  , 2023
Link: http://hdl.handle.net/10..
 
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12

Splice shifting oligonucleotides for use in the treatment o..:

Desviat, Lourdes R ; Martínez-Pizarro, Ainhoa ; Lucas, José Javier..
WO2023057575 A1 (2023-04-13).  , 2023
Link: http://hdl.handle.net/10..
 
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13

Regulating PCCA gene expression by modulation of pseudoexon..:

Spangsberg Petersen, Ulrika Simone ; Dembic, Maja ; Martínez-Pizarro, Ainhoa...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10776996/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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14

O-GlcNAcylation enhances CPS1 catalytic efficiency for ammo..:

Soria, Leandro R ; Makris, Georgios ; D'Alessio, Alfonso M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9445089/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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15

Modeling Splicing Variants Amenable to Antisense Therapy by..:

López-Márquez, Arístides ; Martínez-Pizarro, Ainhoa ; Pérez, Belén..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9703257/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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