Publications (35) Publications in which a researcher has participated

filter_list Genetics

2024

  1. Efficient and safe therapeutic use of paired Cas9-nickases for primary hyperoxaluria type 1

    EMBO molecular medicine, Vol. 16, Núm. 1, pp. 112-131

2023

  1. Counterintuitive structural and functional effects due to naturally occurring mutations targeting the active site of the disease-associated NQO1 enzyme*

    FEBS Journal, Vol. 290, Núm. 7, pp. 1855-1873

2019

  1. Correction: DUB3 and USP7 de-ubiquitinating enzymes control replication inhibitor Geminin: molecular characterization and associations with breast cancer (Oncogene, (2017), 36, 33, (4802-4809), 10.1038/onc.2017.21)

    Oncogene

  2. Insight into the specificity and severity of pathogenic mechanisms associated with missense mutations through experimental and structural perturbation analyses

    Human Molecular Genetics, Vol. 28, Núm. 1, pp. 1-15

2018

  1. Natural (and Unnatural) Small Molecules as Pharmacological Chaperones and Inhibitors in Cancer

    Handbook of Experimental Pharmacology (Springer New York LLC), pp. 155-190

2017

  1. Erratum: DUB3 and USP7 de-ubiquitinating enzymes control replication inhibitor Geminin: molecular characterization and associations with breast cancer (Oncogene (2017) 36 33 (4802-4809))

    Oncogene

2014

  1. The lower limits for protein stability and foldability in primary hyperoxaluria type i

    Biochimica et Biophysica Acta - Proteins and Proteomics, Vol. 1844, Núm. 12, pp. 2355-2365

2013

  1. Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

    European Journal of Human Genetics, Vol. 21, Núm. 2, pp. 162-172

  2. The Role of Protein Denaturation Energetics and Molecular Chaperones in the Aggregation and Mistargeting of Mutants Causing Primary Hyperoxaluria Type I

    PLoS ONE, Vol. 8, Núm. 8

2012

  1. The hMSH2(M688R) lynch syndrome mutation may function as a dominant negative

    Carcinogenesis, Vol. 33, Núm. 9, pp. 1647-1654

2011

  1. Phenotypic correction of a mouse model for primary hyperoxaluria with adeno-associated virus gene transfer

    Molecular Therapy, Vol. 19, Núm. 5, pp. 870-875

  2. Role of low native state kinetic stability and interaction of partially unfolded states with molecular chaperones in the mitochondrial protein mistargeting associated with primary hyperoxaluria

    Amino Acids, Vol. 41, Núm. 5, pp. 1233-1245

2010

  1. Differential expression of liver and kidney proteins in a mouse model for primary hyperoxaluria type I

    FEBS Journal, Vol. 277, Núm. 22, pp. 4766-4774

2009

  1. Primary hyperoxaluria type 1: Update and additional mutation analysis of the AGXT gene

    Human Mutation, Vol. 30, Núm. 6, pp. 910-917

2006

  1. New founding mutation in MSH2 associated with hereditary nonpolyposis colorectal cancer syndrome on the Island of Tenerife

    Cancer Letters, Vol. 244, Núm. 2, pp. 268-273

2004

  1. Serum lipids and estrogen receptor gene polymorphisms in male-to-female transsexuals: Effects of estrogen treatment

    European Journal of Internal Medicine, Vol. 15, Núm. 4, pp. 231-237

2002

  1. A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans

    Journal of Immunology, Vol. 168, Núm. 12, pp. 6323-6329

  2. Cancer modifier alleles inhibiting lung tumorigenesis are common in inbred mouse strains

    International Journal of Cancer, Vol. 99, Núm. 4, pp. 555-559

2000

  1. Association of the mouse infertility factor DAZL1 with actively translating polyribosomes

    Biology of Reproduction, Vol. 62, Núm. 6, pp. 1655-1660

  2. Identification of two novel proteins that interact with germ-cell- specific RNA-binding proteins DAZ and DAZL1

    Genomics, Vol. 65, Núm. 3, pp. 266-273