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Stem Cell Research
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October 31, 2020
Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology
Alejandro Fulgencio-Covián, Mar Álvarez, Barry A Pepers, et al.
Translational Research : the Journal of Laboratory and Clinical Medicine
|
January 18, 2020
Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy
Alejandro Fulgencio-Covián, Esmeralda Alonso-Barroso, Adam J Guenzel, et al.
Human Mutation
|
September 18, 2009
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)
Eva Richard, Ana Jorge-Finnigan, Judit Garcia-Villoria, et al.
Journal of Inherited Metabolic Disease
|
April 30, 2025
Propionic Acidemia-Induced Proarrhythmic Electrophysiological Alterations in Human iPSC-Derived Cardiomyocytes
Anabel Cámara-Checa, Mar Álvarez, Josu Rapún, et al.
Stem Cell Research
|
July 27, 2019
Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene
Laura Arribas-Carreira, Irene Bravo-Alonso, Arístides López-Márquez, et al.
Human Molecular Genetics
|
March 23, 2024
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice
Ainhoa Martínez-Pizarro, Sara Picó, Arístides López-Márquez, et al.
Stem Cell Research
|
May 28, 2019
Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene
Arístides López-Márquez, Esmeralda Alonso-Barroso, Gema Cerro-Tello, et al.
Scientific Reports
|
December 16, 2024
Renal phenotyping in a hypomorphic murine model of propionic aciduria reveals common pathomechanisms in organic acidurias
Anke Schumann, Ainhoa Martinez-Pizarro, Eva Richard, et al.
Molecular Therapy. Nucleic Acids
|
January 11, 2024
Regulating <i>PCCA</i> gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia
Ulrika Simone Spangsberg Petersen, Maja Dembic, Ainhoa Martínez-Pizarro, et al.
Molecular Cell
|
December 20, 2025
H4K16 acylations destabilize chromatin architecture and facilitate transcriptional response during metabolic perturbations
Sandra Nitsch, Aria E Coraor, Tamas Schauer, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 42) with videos related to
Sort By:
Page
of 5
Stem Cell Research
|
October 31, 2020
Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology
Alejandro Fulgencio-Covián, Mar Álvarez, Barry A Pepers, et al.
Translational Research : the Journal of Laboratory and Clinical Medicine
|
January 18, 2020
Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy
Alejandro Fulgencio-Covián, Esmeralda Alonso-Barroso, Adam J Guenzel, et al.
Human Mutation
|
September 18, 2009
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)
Eva Richard, Ana Jorge-Finnigan, Judit Garcia-Villoria, et al.
Journal of Inherited Metabolic Disease
|
April 30, 2025
Propionic Acidemia-Induced Proarrhythmic Electrophysiological Alterations in Human iPSC-Derived Cardiomyocytes
Anabel Cámara-Checa, Mar Álvarez, Josu Rapún, et al.
Stem Cell Research
|
July 27, 2019
Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene
Laura Arribas-Carreira, Irene Bravo-Alonso, Arístides López-Márquez, et al.
Human Molecular Genetics
|
March 23, 2024
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice
Ainhoa Martínez-Pizarro, Sara Picó, Arístides López-Márquez, et al.
Stem Cell Research
|
May 28, 2019
Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene
Arístides López-Márquez, Esmeralda Alonso-Barroso, Gema Cerro-Tello, et al.
Scientific Reports
|
December 16, 2024
Renal phenotyping in a hypomorphic murine model of propionic aciduria reveals common pathomechanisms in organic acidurias
Anke Schumann, Ainhoa Martinez-Pizarro, Eva Richard, et al.
Molecular Therapy. Nucleic Acids
|
January 11, 2024
Regulating <i>PCCA</i> gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia
Ulrika Simone Spangsberg Petersen, Maja Dembic, Ainhoa Martínez-Pizarro, et al.
Molecular Cell
|
December 20, 2025
H4K16 acylations destabilize chromatin architecture and facilitate transcriptional response during metabolic perturbations
Sandra Nitsch, Aria E Coraor, Tamas Schauer, et al.
Page
of 5