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  1. Article ; Online: Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population.

    Bisello, Giovanni / Bertoldi, Mariarita

    International journal of molecular sciences

    2022  Volume 23, Issue 19

    Abstract: Aromatic amino acid decarboxylase (AADC) deficiency is a rare monogenic disease due to mutations in ... ...

    Abstract Aromatic amino acid decarboxylase (AADC) deficiency is a rare monogenic disease due to mutations in the
    MeSH term(s) Amino Acid Metabolism, Inborn Errors ; Aromatic-L-Amino-Acid Decarboxylases/deficiency ; Aromatic-L-Amino-Acid Decarboxylases/genetics ; Carboxy-Lyases/genetics ; Phenotype ; Phosphates ; Pyridoxal
    Chemical Substances Phosphates ; Pyridoxal (3THM379K8A) ; Carboxy-Lyases (EC 4.1.1.-) ; Aromatic-L-Amino-Acid Decarboxylases (EC 4.1.1.28)
    Language English
    Publishing date 2022-09-23
    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/ijms231911238
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  2. Article ; Online: Lymphatic vessels and the renin-angiotensin-system.

    Bertoldi, Giovanni / Caputo, Ilaria / Calò, Lorenzo / Rossitto, Giacomo

    American journal of physiology. Heart and circulatory physiology

    2023  Volume 325, Issue 4, Page(s) H837–H855

    Abstract: The lymphatic system is an integral part of the circulatory system and plays an important role in the fluid homeostasis of the human body. Accumulating evidence has recently suggested the involvement of lymphatic dysfunction in the pathogenesis of cardio- ...

    Abstract The lymphatic system is an integral part of the circulatory system and plays an important role in the fluid homeostasis of the human body. Accumulating evidence has recently suggested the involvement of lymphatic dysfunction in the pathogenesis of cardio-reno-vascular (CRV) disease. However, how the sophisticated contractile machinery of lymphatic vessels is modulated and, possibly impaired in CRV disease, remains largely unknown. In particular, little attention has been paid to the effect of the renin-angiotensin-system (RAS) on lymphatics, despite the high concentration of RAS mediators that these tissue-draining vessels are exposed to and the established role of the RAS in the development of classic microvascular dysfunction and overt CRV disease. We herein review recent studies linking RAS to lymphatic function and/or plasticity and further highlight RAS-specific signaling pathways, previously shown to drive adverse arterial remodeling and CRV organ damage that have potential for direct modulation of the lymphatic system.
    MeSH term(s) Humans ; Renin/metabolism ; Renin-Angiotensin System ; Kidney/metabolism ; Angiotensins/metabolism ; Lymphatic Vessels/metabolism
    Chemical Substances Renin (EC 3.4.23.15) ; Angiotensins
    Language English
    Publishing date 2023-08-11
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 603838-4
    ISSN 1522-1539 ; 0363-6135
    ISSN (online) 1522-1539
    ISSN 0363-6135
    DOI 10.1152/ajpheart.00023.2023
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  3. Article ; Online: Tmprss2 maintains epithelial barrier integrity and transepithelial sodium transport.

    Rickman, Olivia J / Guignard, Emma / Chabanon, Thomas / Bertoldi, Giovanni / Auberson, Muriel / Hummler, Edith

    Life science alliance

    2024  Volume 7, Issue 3

    Abstract: The mouse cortical collecting duct cell line presents a tight epithelium with regulated ion and water transport. The epithelial sodium channel (ENaC) is localized in the apical membrane and constitutes the rate-limiting step for sodium entry, thereby ... ...

    Abstract The mouse cortical collecting duct cell line presents a tight epithelium with regulated ion and water transport. The epithelial sodium channel (ENaC) is localized in the apical membrane and constitutes the rate-limiting step for sodium entry, thereby enabling transepithelial transport of sodium ions. The membrane-bound serine protease
    MeSH term(s) Animals ; Mice ; Biological Transport/physiology ; Claudins/genetics ; Claudins/metabolism ; Epithelial Cell Adhesion Molecule/metabolism ; Ion Transport ; Sodium/metabolism
    Chemical Substances Claudins ; Epithelial Cell Adhesion Molecule ; Sodium (9NEZ333N27) ; TMPRSS2 protein, mouse (EC 3.4.21.-)
    Language English
    Publishing date 2024-01-03
    Publishing country United States
    Document type Journal Article
    ISSN 2575-1077
    ISSN (online) 2575-1077
    DOI 10.26508/lsa.202302304
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  4. Article ; Online: Sodium, Interstitium, Lymphatics and Hypertension-A Tale of Hydraulics.

    Rossitto, Giacomo / Bertoldi, Giovanni / Rutkowski, Joseph M / Mitchell, Brett M / Delles, Christian

    Hypertension (Dallas, Tex. : 1979)

    2024  Volume 81, Issue 4, Page(s) 727–737

    Abstract: Blood pressure is regulated by vascular resistance and intravascular volume. However, exchanges of electrolytes and water between intra and extracellular spaces and filtration of fluid and solutes in the capillary beds blur the separation between ... ...

    Abstract Blood pressure is regulated by vascular resistance and intravascular volume. However, exchanges of electrolytes and water between intra and extracellular spaces and filtration of fluid and solutes in the capillary beds blur the separation between intravascular, interstitial and intracellular compartments. Contemporary paradigms of microvascular exchange posit filtration of fluids and solutes along the whole capillary bed and a prominent role of lymphatic vessels, rather than its venous end, for their reabsorption. In the last decade, these concepts have stimulated greater interest in and better understanding of the lymphatic system as one of the master regulators of interstitial volume homeostasis. Here, we describe the anatomy and function of the lymphatic system and focus on its plasticity in relation to the accumulation of interstitial sodium in hypertension. The pathophysiological relevance of the lymphatic system is exemplified in the kidneys, which are crucially involved in the control of blood pressure, but also hypertension-mediated cardiac damage. Preclinical modulation of the lymphatic reserve for tissue drainage has demonstrated promise, but has also generated conflicting results. A better understanding of the hydraulic element of hypertension and the role of lymphatics in maintaining fluid balance can open new approaches to prevent and treat hypertension and its consequences, such as heart failure.
    MeSH term(s) Humans ; Sodium ; Lymphatic System/physiology ; Lymphatic Vessels ; Hypertension ; Blood Pressure
    Chemical Substances Sodium (9NEZ333N27)
    Language English
    Publishing date 2024-02-22
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 423736-5
    ISSN 1524-4563 ; 0194-911X ; 0362-4323
    ISSN (online) 1524-4563
    ISSN 0194-911X ; 0362-4323
    DOI 10.1161/HYPERTENSIONAHA.123.17942
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  5. Article ; Online: On the imbalanced protective arm of RAS in COVID-19: Lesson from rare genetic tubulopathies.

    Davis, Paul A / Bertoldi, Giovanni / Calò, Lorenzo A

    International journal of clinical practice

    2021  Volume 75, Issue 5, Page(s) e14075

    MeSH term(s) Angiotensin Receptor Antagonists ; COVID-19 ; Humans ; Renin-Angiotensin System ; SARS-CoV-2
    Chemical Substances Angiotensin Receptor Antagonists
    Language English
    Publishing date 2021-04-13
    Publishing country England
    Document type Letter
    ZDB-ID 1386246-7
    ISSN 1742-1241 ; 1368-5031
    ISSN (online) 1742-1241
    ISSN 1368-5031
    DOI 10.1111/ijcp.14075
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  6. Article ; Online: Rho kinase inhibition: from hypertension to cardiovascular-renal remodeling and more.

    Calò, Lorenzo A / Stefanelli, Lucia Federica / Bertoldi, Giovanni / Ravarotto, Verdiana

    Journal of hypertension

    2022  Volume 40, Issue 9, Page(s) 1836–1837

    MeSH term(s) Cardiovascular System ; Humans ; Hypertension/drug therapy ; Kidney ; Protein Kinase Inhibitors ; rho-Associated Kinases
    Chemical Substances Protein Kinase Inhibitors ; rho-Associated Kinases (EC 2.7.11.1)
    Language English
    Publishing date 2022-07-22
    Publishing country England
    Document type Letter ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 605532-1
    ISSN 1473-5598 ; 0263-6352 ; 0952-1178
    ISSN (online) 1473-5598
    ISSN 0263-6352 ; 0952-1178
    DOI 10.1097/HJH.0000000000003156
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  7. Article: The RAAS Goodfellas in Cardiovascular System.

    Caputo, Ilaria / Bertoldi, Giovanni / Driussi, Giulia / Cacciapuoti, Martina / Calò, Lorenzo A

    Journal of clinical medicine

    2023  Volume 12, Issue 21

    Abstract: In the last two decades, the study of the renin-angiotensin-aldosterone system (RAAS) has revealed a counterregulatory protective axis. This protective arm is characterized by ACE2/Ang 1-7/MasR and Ang 1-9 that largely counteracts the classic arm of the ... ...

    Abstract In the last two decades, the study of the renin-angiotensin-aldosterone system (RAAS) has revealed a counterregulatory protective axis. This protective arm is characterized by ACE2/Ang 1-7/MasR and Ang 1-9 that largely counteracts the classic arm of the RAAS mediated by ACE/Ang II/AT1R/aldosterone and plays an important role in the prevention of inflammation, oxidative stress, hypertension, and cardiovascular remodeling. A growing body of evidence suggests that enhancement of this counterregulatory arm of RAAS represents an important therapeutic approach to facing cardiovascular comorbidities. In this review, we provide an overview of the beneficial effects of ACE2, Ang 1-7/MasR, and Ang 1-9 in the context of oxidative stress, vascular dysfunction, and organ damage.
    Language English
    Publishing date 2023-10-31
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm12216873
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  8. Article ; Online: Liquid Crystal Elastomer Lattices with Thermally Programmable Deformation via Multi-Material 3D Printing.

    Kotikian, Arda / Watkins, Audrey A / Bordiga, Giovanni / Spielberg, Andrew / Davidson, Zoey S / Bertoldi, Katia / Lewis, Jennifer A

    Advanced materials (Deerfield Beach, Fla.)

    2024  , Page(s) e2310743

    Abstract: An integrated design, modeling, and multi-material 3D printing platform for fabricating liquid crystal elastomer (LCE) lattices in both homogeneous and heterogeneous layouts with spatially programmable nematic director order and local composition is ... ...

    Abstract An integrated design, modeling, and multi-material 3D printing platform for fabricating liquid crystal elastomer (LCE) lattices in both homogeneous and heterogeneous layouts with spatially programmable nematic director order and local composition is reported. Depending on their compositional topology, these lattices exhibit different reversible shape-morphing transformations upon cycling above and below their respective nematic-to-isotropic transition temperatures. Further, it is shown that there is good agreement between their experimentally observed deformation response and model predictions for all LCE lattice designs evaluated. Lastly, an inverse design model is established and the ability to print LCE lattices with the predicted deformation behavior is demonstrated. This work opens new avenues for creating architected LCE lattices that may find potential application in energy-dissipating structures, microfluidic pumping, mechanical logic, and soft robotics.
    Language English
    Publishing date 2024-01-08
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1474949-X
    ISSN 1521-4095 ; 0935-9648
    ISSN (online) 1521-4095
    ISSN 0935-9648
    DOI 10.1002/adma.202310743
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  9. Article: An attenuated, adult case of AADC deficiency demonstrated by protein characterization.

    Bisello, Giovanni / Saris, Christiaan G J / Franchini, Rossella / Verbeek, Marcel M / Willemsen, Michel A A P / Perduca, Massimiliano / Bertoldi, Mariarita

    Molecular genetics and metabolism reports

    2024  Volume 39, Page(s) 101071

    Abstract: A case of an adult with borderline AADC deficiency symptoms is presented here. Genetic analysis revealed that the patient carries two AADC variants (NM_000790.3: c.1040G > A and c.679G > C) in compound heterozygosis, resulting in p.Arg347Gln and p ... ...

    Abstract A case of an adult with borderline AADC deficiency symptoms is presented here. Genetic analysis revealed that the patient carries two AADC variants (NM_000790.3: c.1040G > A and c.679G > C) in compound heterozygosis, resulting in p.Arg347Gln and p.Glu227Gln amino acid alterations. While p.Arg347Gln is a known pathogenic variant, p.Glu227Gln is unknown. Combining clinical features to bioinformatic and molecular characterization of the AADC protein population of the patient (p.Arg347Gln/p.Arg347Gln homodimer, p.Glu227Gln/p.Glu227Gln homodimer, and p.Glu227Gln/p.Arg347Gln heterodimer), we determined that: i) the p.Arg347Gln/p.Arg347Gln homodimer is inactive since the alteration affects a catalytically essential structural element at the active site, ii) the p.Glu227Gln/p.Glu227Gln homodimer is as active as the wild-type AADC since the alteration occurs at the surface and does not change the chemical nature of the amino acid, and iii) the p.Glu227Gln/p.Arg347Gln heterodimer has a catalytic efficiency 75% that of the wild-type since only one of the two active sites is compromised, thus demonstrating a positive complementation. By this approach, the molecular basis for the mild presentation of the disease is provided, and the experience made can also be useful for personalized therapeutic decisions in other mild AADC deficiency patients. Interestingly, in the last few years, many previously undiagnosed or misdiagnosed patients have been identified as mild cases of AADC deficiency, expanding the phenotype of this neurotransmitter disease.
    Language English
    Publishing date 2024-03-16
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2821908-9
    ISSN 2214-4269
    ISSN 2214-4269
    DOI 10.1016/j.ymgmr.2024.101071
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  10. Article ; Online: Active site serine-193 modulates activity of human aromatic amino acid decarboxylase.

    Bisello, Giovanni / Rossignoli, Giada / Choi, Sarah / Phillips, Robert S / Bertoldi, Mariarita

    Biochemical and biophysical research communications

    2023  Volume 679, Page(s) 6–14

    Abstract: Aromatic amino acid decarboxylase is a pyridoxal 5'-phosphate-dependent enzyme responsible for the synthesis of the neurotransmitters, dopamine and serotonin. Here, by a combination of bioinformatic predictions and analyses, phosphorylation assays, ... ...

    Abstract Aromatic amino acid decarboxylase is a pyridoxal 5'-phosphate-dependent enzyme responsible for the synthesis of the neurotransmitters, dopamine and serotonin. Here, by a combination of bioinformatic predictions and analyses, phosphorylation assays, spectroscopic investigations and activity measurements, we determined that Ser-193, a conserved residue located at the active site, can be phosphorylated, increasing catalytic efficiency. In order to determine the molecular basis for this functional improvement, we determined the structural and kinetic properties of the site-directed variants S193A, S193D and S193E. While S193A retains 27% of the catalytic efficiency of wild-type, the two acidic side chain variants are impaired in catalysis with efficiencies of about 0.15% with respect to the wild-type. Thus, even if located at the active site, Ser-193 is not essential for enzyme activity. We advance the idea that this residue is fundamental for the correct architecture of the active site in terms of network of interactions triggering catalysis. This role has been compared with the properties of the Ser-194 of the highly homologous enzyme histidine decarboxylase whose catalytic loop is visible in the spatial structure, allowing us to propose the validation for the effect of the phosphorylation. The effect could be interesting for AADC deficiency, a rare monogenic disease, whose broad clinical phenotype could be also related to post translational AADC modifications.
    Language English
    Publishing date 2023-08-23
    Publishing country United States
    Document type Journal Article
    ZDB-ID 205723-2
    ISSN 1090-2104 ; 0006-291X ; 0006-291X
    ISSN (online) 1090-2104 ; 0006-291X
    ISSN 0006-291X
    DOI 10.1016/j.bbrc.2023.08.049
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    Zs.A 116: Show issues Location:
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