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Article ; Online: Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.

Encarnação, Marisa / Ribeiro, Isaura / David, Hugo / Coutinho, Maria Francisca / Quelhas, Dulce / Alves, Sandra

2023 Volume 14, Issue 11

Abstract: Niemann-Pick type C (NPC, ORPHA: 646) is a neuro-visceral, psychiatric disease caused predominantly by pathogenic variants in ... ...

Abstract	Niemann-Pick type C (NPC, ORPHA: 646) is a neuro-visceral, psychiatric disease caused predominantly by pathogenic variants in the
MeSH term(s)	Humans ; Niemann-Pick Disease, Type C/diagnosis ; Niemann-Pick Disease, Type C/genetics ; DNA, Complementary ; Carrier Proteins/genetics ; Phenotype ; RNA Splicing
Chemical Substances	DNA, Complementary ; Carrier Proteins
Language	English
Publishing date	2023-10-25
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14111990
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C.

Encarnação, Marisa / David, Hugo / Coutinho, Maria Francisca / Moreira, Luciana / Alves, Sandra

Biomedicines

2023 Volume 11, Issue 10

Abstract: Lipids are essential for cellular function and are tightly controlled at the transcriptional and post-transcriptional levels. Dysregulation of these pathways is associated with vascular diseases, diabetes, cancer, and several inherited metabolic ... ...

Abstract	Lipids are essential for cellular function and are tightly controlled at the transcriptional and post-transcriptional levels. Dysregulation of these pathways is associated with vascular diseases, diabetes, cancer, and several inherited metabolic disorders. MicroRNAs (miRNAs), in particular, are a family of post-transcriptional gene repressors associated with the regulation of many genes that encode proteins involved in multiple lipid metabolism pathways, thereby influencing their homeostasis. Thus, this class of non-coding RNAs (ncRNAs) has emerged as a promising therapeutic target for the treatment of lipid-related metabolic alterations. Most of these miRNAs act at an intracellular level, but in the past few years, a role for miRNAs as intercellular signaling molecules has also been uncovered since they can be transported in bodily fluids and used as potential biomarkers of lipid metabolic alterations. In this review, we point out the current knowledge on the miRNA signature in a lysosomal storage disorder associated with lipid dysfunction, Niemann-Pick type C, and discuss the potential use of miRNAs as biomarkers and therapeutic targets for RNA-based therapies.
Language	English
Publishing date	2023-09-23
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2720867-9
ISSN	2227-9059
ISSN	2227-9059
DOI	10.3390/biomedicines11102615
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Article ; Online: Development of Engineered-U1 snRNA Therapies: Current Status.

Gonçalves, Mariana / Santos, Juliana Inês / Coutinho, Maria Francisca / Matos, Liliana / Alves, Sandra

International journal of molecular sciences

2023 Volume 24, Issue 19

Abstract: Splicing of pre-mRNA is a crucial regulatory stage in the pathway of gene expression. The majority of human genes that encode proteins undergo alternative pre-mRNA splicing and mutations that affect splicing are more prevalent than previously thought. ... ...

Abstract	Splicing of pre-mRNA is a crucial regulatory stage in the pathway of gene expression. The majority of human genes that encode proteins undergo alternative pre-mRNA splicing and mutations that affect splicing are more prevalent than previously thought. Targeting aberrant RNA(s) may thus provide an opportunity to correct faulty splicing and potentially treat numerous genetic disorders. To that purpose, the use of engineered U1 snRNA (either modified U1 snRNAs or exon-specific U1s-ExSpeU1s) has been applied as a potentially therapeutic strategy to correct splicing mutations, particularly those affecting the 5' splice-site (5'ss). Here we review and summarize a vast panoply of studies that used either modified U1 snRNAs or ExSpeU1s to mediate gene therapeutic correction of splicing defects underlying a considerable number of genetic diseases. We also focus on the pre-clinical validation of these therapeutic approaches both in vitro and in vivo, and summarize the main obstacles that need to be overcome to allow for their successful translation to clinic practice in the future.
MeSH term(s)	Humans ; RNA Precursors/metabolism ; RNA Splicing ; RNA Splice Sites ; RNA, Small Nuclear/genetics ; RNA, Small Nuclear/metabolism ; Mutation ; Alternative Splicing
Chemical Substances	U1 small nuclear RNA ; RNA Precursors ; RNA Splice Sites ; RNA, Small Nuclear
Language	English
Publishing date	2023-09-27
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms241914617
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Article ; Online: Improved accuracy in pentraxin-3 quantification assisted by aqueous biphasic systems as serum pretreatment strategies.

Mendes, Maria S M / Rosa, Marguerita E / Coutinho, João A P / Freire, Mara G / E Silva, Francisca A

International journal of biological macromolecules

2023 Volume 253, Issue Pt 8, Page(s) 127540

Abstract: Although pentraxin-3 holds promise as a diagnosis/prognosis biomarker of microbial infections and lung cancer, its analysis in human serum can be constrained by matrix effects caused by high abundance proteins - human serum albumin and immunoglobulin G. ... ...

Abstract	Although pentraxin-3 holds promise as a diagnosis/prognosis biomarker of microbial infections and lung cancer, its analysis in human serum can be constrained by matrix effects caused by high abundance proteins - human serum albumin and immunoglobulin G. Aqueous biphasic systems composed of polymers and citrate buffer are here proposed as a serum pretreatment step to improve the accuracy of pentraxin-3 analysis. Binodal curves were determined to identify the compositions required to form two phases and to correlate the polymers' properties and performance in serum pretreatment and biomarker extraction. Aqueous biphasic systems were evaluated regarding their ability to deplete human serum albumin and immunoglobulin G at the interphase. Polymers of relatively high to intermediate hydrophobicity were unveiled as efficient components to deplete high abundance serum proteins. Considering the possibility to extract pentraxin-3 from human serum into the polymer-rich phase, the system composed of polyethylene glycol with a molecular weight of 1000 g·mol
MeSH term(s)	Humans ; Polyethylene Glycols ; Polymers ; Water ; Serum Albumin, Human ; Immunoglobulin G ; Biomarkers
Chemical Substances	Polyethylene Glycols (3WJQ0SDW1A) ; Polymers ; Water (059QF0KO0R) ; Serum Albumin, Human (ZIF514RVZR) ; Immunoglobulin G ; Biomarkers
Language	English
Publishing date	2023-10-18
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	282732-3
ISSN	1879-0003 ; 0141-8130
ISSN (online)	1879-0003
ISSN	0141-8130
DOI	10.1016/j.ijbiomac.2023.127540
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Article: Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses.

Carvalho, Sofia / Santos, Juliana Inês / Moreira, Luciana / Gonçalves, Mariana / David, Hugo / Matos, Liliana / Encarnação, Marisa / Alves, Sandra / Coutinho, Maria Francisca

Biomedicines

2023 Volume 11, Issue 4

Abstract: Despite extensive research, the links between the accumulation of glycosaminoglycans (GAGs) and the clinical features seen in patients suffering from various forms of mucopolysaccharidoses (MPSs) have yet to be further elucidated. This is particularly ... ...

Abstract	Despite extensive research, the links between the accumulation of glycosaminoglycans (GAGs) and the clinical features seen in patients suffering from various forms of mucopolysaccharidoses (MPSs) have yet to be further elucidated. This is particularly true for the neuropathology of these disorders; the neurological symptoms are currently incurable, even in the cases where a disease-specific therapeutic approach does exist. One of the best ways to get insights on the molecular mechanisms driving that pathogenesis is the analysis of patient-derived cells. Yet, not every patient-derived cell recapitulates relevant disease features. For the neuronopathic forms of MPSs, for example, this is particularly evident because of the obvious inability to access live neurons. This scenario changed significantly with the advent of induced pluripotent stem cell (iPSC) technologies. From then on, a series of differentiation protocols to generate neurons from iPSC was developed and extensively used for disease modeling. Currently, human iPSC and iPSC-derived cell models have been generated for several MPSs and numerous lessons were learnt from their analysis. Here we review most of those studies, not only listing the currently available MPS iPSC lines and their derived models, but also summarizing how they were generated and the major information different groups have gathered from their analyses. Finally, and taking into account that iPSC generation is a laborious/expensive protocol that holds significant limitations, we also hypothesize on a tempting alternative to establish MPS patient-derived neuronal cells in a much more expedite way, by taking advantage of the existence of a population of multipotent stem cells in human dental pulp to establish mixed neuronal and glial cultures.
Language	English
Publishing date	2023-04-21
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2720867-9
ISSN	2227-9059
ISSN	2227-9059
DOI	10.3390/biomedicines11041234
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Article ; Online: Tumoral melanosis after immunotherapy with pembrolizumab - a response sign mimicking melanoma.

Relvas, Maria / Alves, Francisca / Mariano, Angelina / Cardoso, José / Coutinho, Inês

Dermatology online journal

2020 Volume 26, Issue 10

Abstract: Tumoral melanosis is a rare histopathological finding characterized by aggregates of melanophages, in the absence of melanocytes, usually observed in sites of regressed melanocytic lesions, including melanoma. A 72-year-old woman with a history of a ... ...

Abstract	Tumoral melanosis is a rare histopathological finding characterized by aggregates of melanophages, in the absence of melanocytes, usually observed in sites of regressed melanocytic lesions, including melanoma. A 72-year-old woman with a history of a completely excised melanoma on her right arm (T3bN0M0, Stage IIb) presented with clinically-evident regional lymph node metastasis. This was treated with right axillary lymphadenectomy. Subsequently, a 2-centimeter blue-colored patch over the excision scar was identified, along with a blue nodule within the posterior aspect of the same arm, consistent with in-transit metastases. Additional metastases on the right hilar region of the lungs were detected by PET/CT. Hence, the patient began immunotherapy with pembrolizumab. After three months, a second PET/CT revealed a complete response, but the patient maintained the blue-colored patch previously observed. Given the discrepancy between the clinical and metabolic response she underwent a skin biopsy; histological examination showed findings compatible with tumoral melanosis resulting from complete regression of a metastatic lesion. In cases of metastatic melanoma under immunotherapy with anti-PD1 agents, especially pembrolizumab, tumoral melanosis has been anecdotally associated with tumor regression and favorable treatment response. The patient has been maintained on pembrolizumab, accomplishing 15 cycles, and has had a complete response to date.
MeSH term(s)	Aged ; Antibodies, Monoclonal, Humanized/adverse effects ; Biopsy ; Diagnosis, Differential ; Female ; Humans ; Immunotherapy/adverse effects ; Lymph Node Excision ; Lymphatic Metastasis ; Melanoma/diagnosis ; Melanoma/secondary ; Melanoma/surgery ; Melanosis/diagnosis ; Melanosis/etiology ; Skin Neoplasms/pathology
Chemical Substances	Antibodies, Monoclonal, Humanized ; pembrolizumab (DPT0O3T46P)
Language	English
Publishing date	2020-10-15
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	2026239-5
ISSN	1087-2108 ; 1087-2108
ISSN (online)	1087-2108
ISSN	1087-2108
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Article: Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example.

Santos, Juliana Inês / Gonçalves, Mariana / Matos, Liliana / Moreira, Luciana / Carvalho, Sofia / Prata, Maria João / Coutinho, Maria Francisca / Alves, Sandra

Life (Basel, Switzerland)

2022 Volume 12, Issue 5

Abstract: Over recent decades, the many functions of RNA have become more evident. This molecule has been recognized not only as a carrier of genetic information, but also as a specific and essential regulator of gene expression. Different RNA species have been ... ...

Abstract	Over recent decades, the many functions of RNA have become more evident. This molecule has been recognized not only as a carrier of genetic information, but also as a specific and essential regulator of gene expression. Different RNA species have been identified and novel and exciting roles have been unveiled. Quite remarkably, this explosion of novel RNA classes has increased the possibility for new therapeutic strategies that tap into RNA biology. Most of these drugs use nucleic acid analogues and take advantage of complementary base pairing to either mimic or antagonize the function of RNAs. Among the most successful RNA-based drugs are those that act at the pre-mRNA level to modulate or correct aberrant splicing patterns, which are caused by specific pathogenic variants. This approach is particularly tempting for monogenic disorders with associated splicing defects, especially when they are highly frequent among affected patients worldwide or within a specific population. With more than 600 mutations that cause disease affecting the pre-mRNA splicing process, we consider lysosomal storage diseases (LSDs) to be perfect candidates for this type of approach. Here, we introduce the overall rationale and general mechanisms of splicing modulation approaches and highlight the currently marketed formulations, which have been developed for non-lysosomal genetic disorders. We also extensively reviewed the existing preclinical studies on the potential of this sort of therapeutic strategy to recover aberrant splicing and increase enzyme activity in our diseases of interest: the LSDs. Special attention was paid to a particular subgroup of LSDs: the mucopolysaccharidoses (MPSs). By doing this, we hoped to unveil the unique therapeutic potential of the use of this sort of approach for LSDs as a whole.
Language	English
Publishing date	2022-04-19
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2662250-6
ISSN	2075-1729
ISSN	2075-1729
DOI	10.3390/life12050608
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Article ; Online: Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders

Juliana Inês Santos / Mariana Gonçalves / Liliana Matos / Luciana Moreira / Sofia Carvalho / Maria João Prata / Maria Francisca Coutinho / Sandra Alves

Life, Vol 12, Iss 608, p

The Mucopolysaccharidoses Example

2022 Volume 608

Abstract	Over recent decades, the many functions of RNA have become more evident. This molecule has been recognized not only as a carrier of genetic information, but also as a specific and essential regulator of gene expression. Different RNA species have been identified and novel and exciting roles have been unveiled. Quite remarkably, this explosion of novel RNA classes has increased the possibility for new therapeutic strategies that tap into RNA biology. Most of these drugs use nucleic acid analogues and take advantage of complementary base pairing to either mimic or antagonize the function of RNAs. Among the most successful RNA-based drugs are those that act at the pre-mRNA level to modulate or correct aberrant splicing patterns, which are caused by specific pathogenic variants. This approach is particularly tempting for monogenic disorders with associated splicing defects, especially when they are highly frequent among affected patients worldwide or within a specific population. With more than 600 mutations that cause disease affecting the pre-mRNA splicing process, we consider lysosomal storage diseases (LSDs) to be perfect candidates for this type of approach. Here, we introduce the overall rationale and general mechanisms of splicing modulation approaches and highlight the currently marketed formulations, which have been developed for non-lysosomal genetic disorders. We also extensively reviewed the existing preclinical studies on the potential of this sort of therapeutic strategy to recover aberrant splicing and increase enzyme activity in our diseases of interest: the LSDs. Special attention was paid to a particular subgroup of LSDs: the mucopolysaccharidoses (MPSs). By doing this, we hoped to unveil the unique therapeutic potential of the use of this sort of approach for LSDs as a whole.
Keywords	lysosomal storage diseases (LSDs) ; mucopolysaccharidoses (MPSs) ; RNA-based therapies ; antisense oligonucleotides (ASOs) ; splice-switching oligonucleotides (SSOs) ; U1 snRNA (small nuclear RNA) ; Science ; Q
Subject code	610
Language	English
Publishing date	2022-04-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: From rare to common and back again: 60years of lysosomal dysfunction.

Coutinho, Maria Francisca / Alves, Sandra

Molecular genetics and metabolism

2016 Volume 117, Issue 2, Page(s) 53–65

Abstract: Sixty years after its discovery, the lysosome is no longer considered as cell's waste bin but as an organelle playing a central role in cell metabolism. Besides its well known association with lysosomal storage disorders (mostly rare and life-threatening ...

Abstract	Sixty years after its discovery, the lysosome is no longer considered as cell's waste bin but as an organelle playing a central role in cell metabolism. Besides its well known association with lysosomal storage disorders (mostly rare and life-threatening diseases), recent data have shown that the lysosome is also a player in some of the most common conditions of our time; and, perhaps even most important, it is not only a target for orphan drugs (rare disease therapeutic approaches) but also a putative target to treat patients suffering from common complex diseases worldwide. Here we review the striking associations linking rare lysosomal storage disorders such as the well-known Gaucher disease, or even the recently discovered, extremely rare Neuronal Ceroid Lipofuscinosis-11 and some of the most frequent, multifaceted and complex disorders of modern society such as cancer, Parkinson's disease and frontotemporal lobar degeneration.
MeSH term(s)	Animals ; Frontotemporal Lobar Degeneration/etiology ; Frontotemporal Lobar Degeneration/genetics ; Frontotemporal Lobar Degeneration/metabolism ; Humans ; Lysosomal Storage Diseases/complications ; Lysosomal Storage Diseases/drug therapy ; Lysosomal Storage Diseases/genetics ; Lysosomes/metabolism ; Mutation ; Neoplasms/etiology ; Neoplasms/genetics ; Neoplasms/metabolism ; Parkinson Disease/etiology ; Parkinson Disease/genetics ; Parkinson Disease/metabolism ; Rare Diseases/complications ; Rare Diseases/drug therapy ; Rare Diseases/genetics
Language	English
Publishing date	2016-02
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1418518-0
ISSN	1096-7206 ; 1096-7192
ISSN (online)	1096-7206
ISSN	1096-7192
DOI	10.1016/j.ymgme.2015.08.008
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Coutinho et al. Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders. Int. J. Mol. Sci. 2016, 17, 1065.

Coutinho, Maria Francisca / Santos, Juliana Inês / Alves, Sandra

International journal of molecular sciences

2017 Volume 18, Issue 1

Abstract: n/a. ...

Abstract	n/a.
Language	English
Publishing date	2017-01-17
Publishing country	Switzerland
Document type	Published Erratum
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms18010178
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