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  1. Artikel: Editorial: Molecular -genetic causes underlying primary adrenal insufficiency: Current insights into diagnosis and treatment.

    Fragoso, Maria Candida B V / Bachega, Tânia A S S / Dain, Liliana

    Frontiers in endocrinology

    2022  Band 13, Seite(n) 995151

    Mesh-Begriff(e) Addison Disease/complications ; Adrenal Insufficiency/diagnosis ; Adrenal Insufficiency/genetics ; Adrenal Insufficiency/therapy ; Causality ; Humans
    Sprache Englisch
    Erscheinungsdatum 2022-08-29
    Erscheinungsland Switzerland
    Dokumenttyp Editorial
    ZDB-ID 2592084-4
    ISSN 1664-2392
    ISSN 1664-2392
    DOI 10.3389/fendo.2022.995151
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel: Expression and characterisation of

    Ferder, Ianina C / Espeche, Lucía D / Bruque, Carlos D / Parborell, Fernanda / Tesone, Marta / Dain, Liliana

    Reproduction, fertility, and development

    2022  Band 34, Heft 16, Seite(n) 1034–1042

    Abstract: Context: The FMR1 gene consists of 17 exons and codes for the FMRP protein. FMR1 is involved in four genetic disorders depending on the CGG repeats length in its 5'UTR: the full mutation is responsible for the Fragile X syndrome while the premutation is ...

    Abstract Context: The FMR1 gene consists of 17 exons and codes for the FMRP protein. FMR1 is involved in four genetic disorders depending on the CGG repeats length in its 5'UTR: the full mutation is responsible for the Fragile X syndrome while the premutation is associated with the Fragile X-associated Tremor/Ataxia Syndrome, Fragile X-associated Primary Ovarian Insufficiency (FXPOI) and Fragile X-associated neuropsychiatric disorders. FMR1 presents multiple isoforms resulting from skipping of exons 12 and 14 and the use of alternative splice sites in exons 15 and 17.
    Aims: To investigate the expression of Fmr1 splicing variants during folliculogenesis in the rat.
    Methods: We used preantral, early antral and preovulatory follicles to isolate RNA and characterise, by fluorescent PCR followed by sequencing, all the isoforms present in the different follicular stages.
    Key results: We identified two isoforms resulting from splicing of exon 12, six isoforms resulting from splicing of exon 14 and 15 and one isoform for exon 17.
    Conclusions: The expression levels of the isoforms vary within each follicular stage but not between different stages of folliculogenesis. Importantly, we identify for the first time in rat, an isoform that contains exon 12 and two isoforms, one that includes and one that excludes exon 14 and use the third acceptor site in exon 15.
    Implications: Characterisation of the different FMR1 variants expressed during folliculogenesis will help to understand the potential distinct cellular roles of each of them and the possible implication in the development of FXPOI.
    Mesh-Begriff(e) 5' Untranslated Regions ; Animals ; Female ; Fragile X Mental Retardation Protein/genetics ; Mutation ; Ovarian Follicle/growth & development ; Protein Isoforms/genetics ; RNA Splice Sites ; Rats
    Chemische Substanzen 5' Untranslated Regions ; Fmr1 protein, rat ; Protein Isoforms ; RNA Splice Sites ; Fragile X Mental Retardation Protein (139135-51-6)
    Sprache Englisch
    Erscheinungsdatum 2022-09-18
    Erscheinungsland Australia
    Dokumenttyp Journal Article
    ZDB-ID 1019913-5
    ISSN 1448-5990 ; 1031-3613
    ISSN (online) 1448-5990
    ISSN 1031-3613
    DOI 10.1071/RD22059
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: Expression and characterisation of <i>Fmr1</i> splice variants during folliculogenesis in the rat

    Ferder, Ianina C. / Espeche, Lucía D. / Bruque, Carlos D. / Parborell, Fernanda / Tesone, Marta / Dain, Liliana

    Reproduction, Fertility and Development. 2022, v. 34, no. 16 p.1034-1042

    2022  

    Abstract: Context: The FMR1 gene consists of 17 exons and codes for the FMRP protein. FMR1 is involved in four genetic disorders depending on the CGG repeats length in its 5′UTR: the full mutation is responsible for the Fragile X syndrome while the premutation is ... ...

    Abstract Context: The FMR1 gene consists of 17 exons and codes for the FMRP protein. FMR1 is involved in four genetic disorders depending on the CGG repeats length in its 5′UTR: the full mutation is responsible for the Fragile X syndrome while the premutation is associated with the Fragile X-associated Tremor/Ataxia Syndrome, Fragile X-associated Primary Ovarian Insufficiency (FXPOI) and Fragile X-associated neuropsychiatric disorders. FMR1 presents multiple isoforms resulting from skipping of exons 12 and 14 and the use of alternative splice sites in exons 15 and 17. Aims: To investigate the expression of Fmr1 splicing variants during folliculogenesis in the rat. Methods: We used preantral, early antral and preovulatory follicles to isolate RNA and characterise, by fluorescent PCR followed by sequencing, all the isoforms present in the different follicular stages. Key results: We identified two isoforms resulting from splicing of exon 12, six isoforms resulting from splicing of exon 14 and 15 and one isoform for exon 17. Conclusions: The expression levels of the isoforms vary within each follicular stage but not between different stages of folliculogenesis. Importantly, we identify for the first time in rat, an isoform that contains exon 12 and two isoforms, one that includes and one that excludes exon 14 and use the third acceptor site in exon 15. Implications: Characterisation of the different FMR1 variants expressed during folliculogenesis will help to understand the potential distinct cellular roles of each of them and the possible implication in the development of FXPOI.
    Schlagwörter RNA ; alternative splicing ; exons ; fluorescence ; follicular development ; mutation ; rats ; reproduction ; antral follicle ; Fmr1 ; follicle ; folliculogenesis ; ovary ; preantral follicle ; preovulatory follicle ; splicing isoforms</kwd>
    Sprache Englisch
    Umfang p. 1034-1042.
    Erscheinungsort CSIRO Publishing
    Dokumenttyp Artikel ; Online
    ZDB-ID 1019913-5
    ISSN 1448-5990 ; 1031-3613
    ISSN (online) 1448-5990
    ISSN 1031-3613
    DOI 10.1071/RD22059
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  4. Artikel: Conformational stability, dynamics and function of human frataxin: Tryptophan side chain interplay

    Espeche, Lucía D. / Sewell, Karl Ellioth / Castro, Ignacio H. / Capece, Luciana / Pignataro, María Florencia / Dain, Liliana / Santos, Javier

    Archives of biochemistry and biophysics. 2022 Jan. 15, v. 715

    2022  

    Abstract: In humans, the loss of frataxin results in Friedreich's Ataxia, a neurodegenerative disease, in which a deficit in the iron–sulfur cluster assembly is observed. In this work, we analyzed three frataxin variants in which one tryptophan was replaced by a ... ...

    Abstract In humans, the loss of frataxin results in Friedreich's Ataxia, a neurodegenerative disease, in which a deficit in the iron–sulfur cluster assembly is observed. In this work, we analyzed three frataxin variants in which one tryptophan was replaced by a glycine: W155G, W168G and W173G. As expected, given its localization in the assembly site, W155G was not able to activate the desulfurase activity of the supercomplex for iron–sulfur cluster assembly. In turn, W168G, which was significantly more unstable than W155G, was fully active. W173G, which was highly unstable as W168G, showed a significantly decreased activity, only slightly higher than W155G. As W168G and W173G were highly sensitive to proteolysis, we investigated the protein motions by molecular dynamic simulations. We observed that W173G may display altered motions at the Trp155 site. Furthermore, we revealed a H-bond network in which Trp155 takes part, involving residues Gln148, Asn151, Gln153 and Arg165. We suggest that this motion modulation that specifically alters the population of different Trp155 rotamers can be directly transferred to the assembly site, altering the dynamics of the ISCU His137 key residue. This hypothesis was also contrasted by means of molecular dynamic simulations of frataxin in the context of the complete supercomplex. We propose that the supercomplex requires very definite motions of Trp155 to consolidate the assembly site.
    Schlagwörter biophysics ; humans ; neurodegenerative diseases ; proteolysis ; tryptophan
    Sprache Englisch
    Erscheinungsverlauf 2022-0115
    Erscheinungsort Elsevier Inc.
    Dokumenttyp Artikel
    ZDB-ID 523-x
    ISSN 1096-0384 ; 0003-9861
    ISSN (online) 1096-0384
    ISSN 0003-9861
    DOI 10.1016/j.abb.2021.109086
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  5. Artikel ; Online: A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome.

    Mendez, Rodrigo / Delea, Marisol / Dain, Liliana / Rittler, Monica

    Clinical dysmorphology

    2019  Band 29, Heft 1, Seite(n) 42–45

    Mesh-Begriff(e) Blepharophimosis/genetics ; Blepharophimosis/pathology ; Congenital Hypothyroidism/genetics ; Congenital Hypothyroidism/pathology ; Facies ; Frameshift Mutation ; Heart Defects, Congenital/genetics ; Heart Defects, Congenital/pathology ; Histone Acetyltransferases/genetics ; Humans ; Infant, Newborn ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Joint Instability/genetics ; Joint Instability/pathology ; Male ; Whole Exome Sequencing
    Chemische Substanzen Histone Acetyltransferases (EC 2.3.1.48) ; KAT6B protein, human (EC 2.3.1.48)
    Sprache Englisch
    Erscheinungsdatum 2019-04-01
    Erscheinungsland England
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 1121482-x
    ISSN 1473-5717 ; 0962-8827
    ISSN (online) 1473-5717
    ISSN 0962-8827
    DOI 10.1097/MCD.0000000000000270
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  6. Artikel ; Online: Genetics and genomic medicine in Argentina.

    Cotignola, Javier / Rozental, Sandra / Buzzalino, Noemí / Dain, Liliana

    Molecular genetics & genomic medicine

    2019  Band 7, Heft 4, Seite(n) e00571

    Abstract: In this letter, we want to add information to the paper "Genetics and genomic medicine in Argentina" that we considered it was lacking. Argentina is a big country with inequalities in the access to public health care, especially in medical genetics and ... ...

    Abstract In this letter, we want to add information to the paper "Genetics and genomic medicine in Argentina" that we considered it was lacking. Argentina is a big country with inequalities in the access to public health care, especially in medical genetics and genomics.
    Mesh-Begriff(e) Argentina ; Genetics, Medical ; Genomics ; Medicine
    Sprache Englisch
    Erscheinungsdatum 2019-02-05
    Erscheinungsland United States
    Dokumenttyp Letter ; Comment
    ZDB-ID 2734884-2
    ISSN 2324-9269 ; 2324-9269
    ISSN (online) 2324-9269
    ISSN 2324-9269
    DOI 10.1002/mgg3.571
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  7. Artikel ; Online: Conformational stability, dynamics and function of human frataxin: Tryptophan side chain interplay.

    Espeche, Lucía D / Sewell, Karl Ellioth / Castro, Ignacio H / Capece, Luciana / Pignataro, María Florencia / Dain, Liliana / Santos, Javier

    Archives of biochemistry and biophysics

    2021  Band 715, Seite(n) 109086

    Abstract: In humans, the loss of frataxin results in Friedreich's Ataxia, a neurodegenerative disease, in which a deficit in the iron-sulfur cluster assembly is observed. In this work, we analyzed three frataxin variants in which one tryptophan was replaced by a ... ...

    Abstract In humans, the loss of frataxin results in Friedreich's Ataxia, a neurodegenerative disease, in which a deficit in the iron-sulfur cluster assembly is observed. In this work, we analyzed three frataxin variants in which one tryptophan was replaced by a glycine: W155G, W168G and W173G. As expected, given its localization in the assembly site, W155G was not able to activate the desulfurase activity of the supercomplex for iron-sulfur cluster assembly. In turn, W168G, which was significantly more unstable than W155G, was fully active. W173G, which was highly unstable as W168G, showed a significantly decreased activity, only slightly higher than W155G. As W168G and W173G were highly sensitive to proteolysis, we investigated the protein motions by molecular dynamic simulations. We observed that W173G may display altered motions at the Trp155 site. Furthermore, we revealed a H-bond network in which Trp155 takes part, involving residues Gln148, Asn151, Gln153 and Arg165. We suggest that this motion modulation that specifically alters the population of different Trp155 rotamers can be directly transferred to the assembly site, altering the dynamics of the ISCU His137 key residue. This hypothesis was also contrasted by means of molecular dynamic simulations of frataxin in the context of the complete supercomplex. We propose that the supercomplex requires very definite motions of Trp155 to consolidate the assembly site.
    Mesh-Begriff(e) Humans ; Iron-Binding Proteins/chemistry ; Iron-Binding Proteins/genetics ; Molecular Dynamics Simulation ; Mutagenesis, Site-Directed ; Mutation ; Protein Conformation ; Protein Stability ; Tryptophan/chemistry ; Frataxin
    Chemische Substanzen Iron-Binding Proteins ; Tryptophan (8DUH1N11BX)
    Sprache Englisch
    Erscheinungsdatum 2021-11-19
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 523-x
    ISSN 1096-0384 ; 0003-9861
    ISSN (online) 1096-0384
    ISSN 0003-9861
    DOI 10.1016/j.abb.2021.109086
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  8. Artikel ; Online: Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies.

    Massara, Lucía S / Delea, Marisol / Espeche, Lucía / Bruque, Carlos D / Oliveri, Jaen / Brun, Paloma / Furforo, Lilian / Dain, Liliana / Rozental, Sandra

    Cytogenetic and genome research

    2019  Band 159, Heft 3, Seite(n) 137–142

    Abstract: Chromosomal trisomies are the most frequent major chromosomal anomalies in humans and can be present in a mosaic or a non-mosaic constitution. We report the first case of a newborn girl presenting with multiple congenital anomalies and a double mosaic ... ...

    Abstract Chromosomal trisomies are the most frequent major chromosomal anomalies in humans and can be present in a mosaic or a non-mosaic constitution. We report the first case of a newborn girl presenting with multiple congenital anomalies and a double mosaic trisomy involving chromosome 14 and the X chromosome detected by array CGH. Karyotype analysis revealed a double mosaic with 2 independent abnormal cell lines and the absence of 46,XX and 48,XXX,+14 cell lineages. The patient showed most of the clinical characteristics of mosaic trisomy 14. Analysis of autosomal DNA markers in the proband's blood sample did not support the presence of chimerism. Further analysis of chromosome X DNA markers suggests that the extra X chromosome most probably arose as a consequence of nondisjunction in meiosis II in the maternal lineage.
    Mesh-Begriff(e) Abnormalities, Multiple/genetics ; Chromosomes, Human, Pair 14 ; Chromosomes, Human, X/genetics ; Female ; Humans ; Infant, Newborn ; Mosaicism ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development/genetics ; Trisomy/genetics
    Sprache Englisch
    Erscheinungsdatum 2019-11-30
    Erscheinungsland Switzerland
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 2087824-2
    ISSN 1424-859X ; 1424-8581
    ISSN (online) 1424-859X
    ISSN 1424-8581
    DOI 10.1159/000504238
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  9. Artikel: Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system

    Espeche, Lucía Daniela / Solari, Andrea Paula / Mori, María Ángeles / Arenas, Rubén Martín / Palomares, María / Pérez, Myriam / Martínez, Cinthia / Lotersztein, Vanesa / Segovia, Mabel / Armando, Romina / Dain, Liliana Beatriz / Nevado, Julián / Lapunzina, Pablo / Rozental, Sandra

    Molecular biology reports. 2020 Sept., v. 47, no. 9

    2020  

    Abstract: Intellectual disability is a neurodevelopmental disorder in which genetic, epigenetic and environmental factors are involved. In consequence, the determination of its etiology is usually complex. Though many countries have migrated from conventional ... ...

    Abstract Intellectual disability is a neurodevelopmental disorder in which genetic, epigenetic and environmental factors are involved. In consequence, the determination of its etiology is usually complex. Though many countries have migrated from conventional cytogenetic analysis to chromosomal microarrays as the first-tier genetic test for patients with this condition, this last technique was implemented in our country a few years ago. We report on the results of the implementation of chromosomal microarrays in a cohort of 133 patients with intellectual disability and dysmorphic features, normal karyotype and normal subtelomeric MLPA results in an Argentinean public health institution. Clinically relevant copy number variants were found in 12% of the patients and one or more copy number variants classified as variants of uncertain significance were found in 5.3% of them. Although the diagnostic yield of chromosomal microarrays is greater than conventional cytogenetics for these patients, there are financial limitations to adopt this technique as a first-tier test in our country, especially in the public health system.
    Schlagwörter epigenetics ; etiology ; karyotyping ; microarray technology ; molecular biology ; public health
    Sprache Englisch
    Erscheinungsverlauf 2020-09
    Umfang p. 6863-6878.
    Erscheinungsort Springer Netherlands
    Dokumenttyp Artikel
    Anmerkung NAL-AP-2-clean
    ZDB-ID 186544-4
    ISSN 1573-4978 ; 0301-4851
    ISSN (online) 1573-4978
    ISSN 0301-4851
    DOI 10.1007/s11033-020-05743-6
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  10. Artikel: Frataxin Structure and Function.

    Castro, Ignacio Hugo / Pignataro, María Florencia / Sewell, Karl Ellioth / Espeche, Lucía Daniela / Herrera, María Georgina / Noguera, Martín Ezequiel / Dain, Liliana / Nadra, Alejandro Daniel / Aran, Martín / Smal, Clara / Gallo, Mariana / Santos, Javier

    Sub-cellular biochemistry

    2020  Band 93, Seite(n) 393–438

    Abstract: Mammalian frataxin is a small mitochondrial protein involved in iron sulfur cluster assembly. Frataxin deficiency causes the neurodegenerative disease Friedreich's Ataxia. Valuable knowledge has been gained on the structural dynamics of frataxin, metal- ... ...

    Abstract Mammalian frataxin is a small mitochondrial protein involved in iron sulfur cluster assembly. Frataxin deficiency causes the neurodegenerative disease Friedreich's Ataxia. Valuable knowledge has been gained on the structural dynamics of frataxin, metal-ion-protein interactions, as well as on the effect of mutations on protein conformation, stability and internal motions. Additionally, laborious studies concerning the enzymatic reactions involved have allowed for understanding the capability of frataxin to modulate Fe-S cluster assembly function. Remarkably, frataxin biological function depends on its interaction with some proteins to form a supercomplex, among them NFS1 desulfurase and ISCU, the scaffolding protein. By combining multiple experimental tools including high resolution techniques like NMR and X-ray, but also SAXS, crosslinking and mass-spectrometry, it was possible to build a reliable model of the structure of the desulfurase supercomplex NFS1/ACP-ISD11/ISCU/frataxin. In this chapter, we explore these issues showing how the scientific view concerning frataxin structure-function relationships has evolved over the last years.
    Mesh-Begriff(e) Friedreich Ataxia/genetics ; Humans ; Iron-Binding Proteins/chemistry ; Iron-Binding Proteins/genetics ; Iron-Binding Proteins/metabolism ; Scattering, Small Angle ; Structure-Activity Relationship ; X-Ray Diffraction ; Frataxin
    Chemische Substanzen Iron-Binding Proteins
    Sprache Englisch
    Erscheinungsdatum 2020-01-11
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Review
    ISSN 0306-0225 ; 0096-8757
    ISSN 0306-0225 ; 0096-8757
    DOI 10.1007/978-3-030-28151-9_13
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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