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Martínez-Pizarro, Ainhoa
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1

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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2

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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3

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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4

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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5

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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6

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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7

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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8

Antisense Oligonucleotide Rescue of Deep-Intronic Variants ..:

Martínez-Pizarro, Ainhoa ; Leal, Fátima ; Holm, Lise Lolle...
http://hdl.handle.net/10668/19703.  , 2022
Link: http://hdl.handle.net/10..
 
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9

RNA solutions to treat inborn errors of metabolism:

Martínez-Pizarro, Ainhoa ; Desviat, Lourdes R
#PLACEHOLDER_PARENT_METADATA_VALUE#.  , 2022
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..
Publisher's version.  , 2018
Link: http://hdl.handle.net/10..
 
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11

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

Martínez-Pizarro, Ainhoa ; Dembic, Maja ; Pérez, Belén..
Martínez-Pizarro , A , Dembic , M , Pérez , B , Andresen , B S & Desviat , L R 2018 , ' Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site ' , PLOS Genetics , vol. 14 , no. 4 , e1007360 . https://doi.org/10.1371/journal.pgen.1007360.  , 2018
Link: https://portal.findresea..
 
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12

Endoplasmic reticulum stress and autophagy in homocystinuri..:

Martínez-Pizarro, Ainhoa ; Desviat, Lourdes R ; Ugarte, Magdalena..
Publisher's version.  , 2016
Link: http://hdl.handle.net/10..
 
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13

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

Soria, Leandro R ; Martínez Pizarro, Ainhoa ; Richard Rodríguez, Eva María.
Nature Communications.  , 2023
Link: http://hdl.handle.net/10..
 
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14

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

Martínez Pizarro, Ainhoa ; Calmels, Nadège ; Schalk, Audrey...
Gene.  , 2023
Link: http://hdl.handle.net/10..
 
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15

RNA solutions to treat inborn errors of metabolism:

Martínez Pizarro, Ainhoa ; Desviat, Lourdes R
Molecular Genetics and Metabolism.  , 2023
Link: http://hdl.handle.net/10..
 
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