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Article: 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

2022 Volume 13, Page(s) 995151

MeSH term(s)	Addison Disease/complications ; Adrenal Insufficiency/diagnosis ; Adrenal Insufficiency/genetics ; Adrenal Insufficiency/therapy ; Causality ; Humans
Language	English
Publishing date	2022-08-29
Publishing country	Switzerland
Document type	Editorial
ZDB-ID	2592084-4
ISSN	1664-2392
ISSN	1664-2392
DOI	10.3389/fendo.2022.995151
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Article: Expression and characterisation of

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

Reproduction, fertility, and development

2022 Volume 34, Issue 16, Page(s) 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 term(s)	5' Untranslated Regions ; Animals ; Female ; Fragile X Mental Retardation Protein/genetics ; Mutation ; Ovarian Follicle/growth & development ; Protein Isoforms/genetics ; RNA Splice Sites ; Rats
Chemical Substances	5' Untranslated Regions ; Fmr1 protein, rat ; Protein Isoforms ; RNA Splice Sites ; Fragile X Mental Retardation Protein (139135-51-6)
Language	English
Publishing date	2022-09-18
Publishing country	Australia
Document type	Journal Article
ZDB-ID	1019913-5
ISSN	1448-5990 ; 1031-3613
ISSN (online)	1448-5990
ISSN	1031-3613
DOI	10.1071/RD22059
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Article ; 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 Volume 29, Issue 1, Page(s) 42–45

MeSH term(s)	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
Chemical Substances	Histone Acetyltransferases (EC 2.3.1.48) ; KAT6B protein, human (EC 2.3.1.48)
Language	English
Publishing date	2019-04-01
Publishing country	England
Document type	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
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Article ; Online: Genetics and genomic medicine in Argentina.

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

Molecular genetics & genomic medicine

2019 Volume 7, Issue 4, Page(s) 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 term(s)	Argentina ; Genetics, Medical ; Genomics ; Medicine
Language	English
Publishing date	2019-02-05
Publishing country	United States
Document type	Letter ; Comment
ZDB-ID	2734884-2
ISSN	2324-9269 ; 2324-9269
ISSN (online)	2324-9269
ISSN	2324-9269
DOI	10.1002/mgg3.571
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Article ; 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.
Keywords	RNA ; alternative splicing ; exons ; fluorescence ; follicular development ; mutation ; rats ; reproduction ; antral follicle ; Fmr1 ; follicle ; folliculogenesis ; ovary ; preantral follicle ; preovulatory follicle ; splicing isoforms</kwd>
Language	English
Size	p. 1034-1042.
Publishing place	CSIRO Publishing
Document type	Article ; Online
ZDB-ID	1019913-5
ISSN	1448-5990 ; 1031-3613
ISSN (online)	1448-5990
ISSN	1031-3613
DOI	10.1071/RD22059
Database	NAL-Catalogue (AGRICOLA)

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Article: 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.
Keywords	biophysics ; humans ; neurodegenerative diseases ; proteolysis ; tryptophan
Language	English
Dates of publication	2022-0115
Publishing place	Elsevier Inc.
Document type	Article
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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Article ; 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 Volume 715, Page(s) 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 term(s)	Humans ; Iron-Binding Proteins/chemistry ; Iron-Binding Proteins/genetics ; Molecular Dynamics Simulation ; Mutagenesis, Site-Directed ; Mutation ; Protein Conformation ; Protein Stability ; Tryptophan/chemistry ; Frataxin
Chemical Substances	Iron-Binding Proteins ; Tryptophan (8DUH1N11BX)
Language	English
Publishing date	2021-11-19
Publishing country	United States
Document type	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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Article ; 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 Volume 159, Issue 3, Page(s) 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 term(s)	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
Language	English
Publishing date	2019-11-30
Publishing country	Switzerland
Document type	Case Reports ; Journal Article
ZDB-ID	2087824-2
ISSN	1424-859X ; 1424-8581
ISSN (online)	1424-859X
ISSN	1424-8581
DOI	10.1159/000504238
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Article: 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 Volume 93, Page(s) 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 term(s)	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
Chemical Substances	Iron-Binding Proteins
Language	English
Publishing date	2020-01-11
Publishing country	United States
Document type	Journal Article ; Review
ISSN	0306-0225 ; 0096-8757
ISSN	0306-0225 ; 0096-8757
DOI	10.1007/978-3-030-28151-9_13
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Article ; Online: 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 Volume 47, Issue 9, Page(s) 6863–6878

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.
MeSH term(s)	Argentina ; Chromosomes/genetics ; Cohort Studies ; Cytogenetic Analysis ; DNA Copy Number Variations ; Female ; Genetic Testing ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Karyotyping ; Male ; Microarray Analysis ; Multiplex Polymerase Chain Reaction ; Public Health
Language	English
Publishing date	2020-09-13
Publishing country	Netherlands
Document type	Journal Article
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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