LIVIVO - Search results -

Search results

Result 1 - 10 of total 63

Search options

Article ; Online: Reply to the comment on "Does valerian work for insomnia? An umbrella review of the evidence".

Valente, Valéria / Machado, Daniela / Jorge, Susana / Drake, Christopher L / Marques, Daniel Ruivo

European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology

2024 Volume 83, Page(s) 55

Language	English
Publishing date	2024-04-20
Publishing country	Netherlands
Document type	Letter
ZDB-ID	1082947-7
ISSN	1873-7862 ; 0924-977X
ISSN (online)	1873-7862
ISSN	0924-977X
DOI	10.1016/j.euroneuro.2024.04.003
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 3288: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 630: Show issues

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Details ▾

Article ; Online: Does valerian work for insomnia? An umbrella review of the evidence.

Valente, Valéria / Machado, Daniela / Jorge, Susana / Drake, Christopher L / Marques, Daniel Ruivo

European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology

2024 Volume 82, Page(s) 6–28

Abstract: Valerian is one of the most used herbal agents (phytotherapeutics) to manage sleep disturbances, in particular, sleep-onset difficulties in young adults. However, the evidence based on primary studies and systematic reviews that supports its use in this ... ...

Abstract	Valerian is one of the most used herbal agents (phytotherapeutics) to manage sleep disturbances, in particular, sleep-onset difficulties in young adults. However, the evidence based on primary studies and systematic reviews that supports its use in this domain is weak or inconclusive. In the current study, an umbrella review was performed on the efficacy of valerian for sleep disturbances with a focus on insomnia. As such, only systematic reviews (with or without meta-analysis) were considered for this study. Systematic searches in PubMed, Web of Science, Scopus, Cochrane Database of Systematic Reviews, PROSPERO and CNKI databases retrieved 70 records. Only 8 articles were considered eligible for qualitative analysis. Overall, data suggested that valerian has a good safety profile, however, the results showed no evidence of efficacy for the treatment of insomnia. Moreover, valerian appears to be effective concerning subjective improvement of sleep quality, although its effectiveness has not been demonstrated with quantitative or objective measurements. Despite its widespread use and prescription by general practitioners, psychiatrists and other professionals, valerian does not have empirical support for insomnia. Further studies, in particular high quality randomized controlled trials, are highly recommended since there are scarce studies and the existing ones are quite heterogeneous and with low methodological quality. The implications of our findings for clinical practice are critically discussed.
MeSH term(s)	Humans ; Sleep Initiation and Maintenance Disorders/drug therapy ; Valerian ; Phytotherapy/methods
Language	English
Publishing date	2024-02-14
Publishing country	Netherlands
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	1082947-7
ISSN	1873-7862 ; 0924-977X
ISSN (online)	1873-7862
ISSN	0924-977X
DOI	10.1016/j.euroneuro.2024.01.008
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 3288: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 630: Show issues

Order via subito

Details ▾

Article ; Online: HIPK2 in cancer biology and therapy: Recent findings and future perspectives.

Conte, Andrea / Valente, Valeria / Paladino, Simona / Pierantoni, Giovanna Maria

Cellular signalling

2022 Volume 101, Page(s) 110491

Abstract: Homeodomain-interacting protein kinase 2 (HIPK2) is a serine-threonine kinase that phosphorylates and regulates a plethora of transcriptional regulators and chromatin modifiers. The heterogeneity of its interactome allows HIPK2 to modulate several ... ...

Abstract	Homeodomain-interacting protein kinase 2 (HIPK2) is a serine-threonine kinase that phosphorylates and regulates a plethora of transcriptional regulators and chromatin modifiers. The heterogeneity of its interactome allows HIPK2 to modulate several cellular processes and signaling pathways, ultimately regulating cell fate and proliferation. Because of its p53-dependent pro-apoptotic activity and its downregulation in many tumor types, HIPK2 is traditionally considered a bone fide tumor suppressor gene. However, recent findings revealed that the role of HIPK2 in the pathogenesis of cancer is much more complex, ranging from tumor suppressive to oncogenic, strongly depending on the cellular context. Here, we review the very recent data emerged in the last years about the involvement of HIPK2 in cancer biology and therapy, highlighting the various alterations of this kinase (downregulation, upregulation, mutations and/or delocalization) in dependence on the cancer types. In addition, we discuss the recent advancement in the understanding the tumor suppressive and oncogenic functions of HIPK2, its role in establishing the response to cancer therapies, and its regulation by cancer-associated microRNAs. All these data strengthen the idea that HIPK2 is a key player in many types of cancer; therefore, it could represent an important prognostic marker, a factor to predict therapy response, and even a therapeutic target itself.
MeSH term(s)	Humans ; Tumor Suppressor Protein p53/metabolism ; Apoptosis/genetics ; Protein Serine-Threonine Kinases/genetics ; Neoplasms/genetics ; Neoplasms/therapy ; Biology ; Carrier Proteins/genetics
Chemical Substances	Tumor Suppressor Protein p53 ; Protein Serine-Threonine Kinases (EC 2.7.11.1) ; HIPK2 protein, human (EC 2.7.1.-) ; Carrier Proteins
Language	English
Publishing date	2022-10-12
Publishing country	England
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	1002702-6
ISSN	1873-3913 ; 0898-6568
ISSN (online)	1873-3913
ISSN	0898-6568
DOI	10.1016/j.cellsig.2022.110491
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 2579: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Phloroglucinol-Derived Medications are Effective in Reducing Pain and Spasms of Urinary and Biliary Tracts: Results of Phase 3 Multicentre, Open-Label, Randomized, Comparative Studies of Clinical Effectiveness and Safety.

Corvino, Angela / Magli, Elisa / Minale, Massimiliano / Autelitano, Andrea / Valente, Valeria / Pierantoni, Giovanna Maria

Advances in therapy

2022 Volume 40, Issue 2, Page(s) 619–640

Abstract: Introduction: Pain and spasms of urinary and biliary tracts are conditions causing poor quality of life. Treatment with analgesic drugs such as non-steroidal anti-inflammatory drugs and modulators of the parasympathetic system are not always tolerated, ... ...

Abstract	Introduction: Pain and spasms of urinary and biliary tracts are conditions causing poor quality of life. Treatment with analgesic drugs such as non-steroidal anti-inflammatory drugs and modulators of the parasympathetic system are not always tolerated, and often additional therapeutic options are necessary. The present analysis aimed to evaluate the pharmacokinetics and effectiveness of oral and parenteral preparations based on phloroglucinol in reducing pain and spasms associated with renal or biliary colic in phase 3, multicentre, open-label, randomized, comparative studies on clinical effectiveness and safety. Methods: Pharmacokinetic and pharmacodynamic studies were carried out. Four phase 3 multicentre, open-label, randomized, comparative studies were conducted to evaluate the clinical effectiveness and safety in patients with pain and spasms of urinary or biliary tracts. Eligible patients randomly received either phloroglucinol orally or via intramuscular (IM)/intravenous (IV) administration and reference drug, dexketoprofen for urinary spasms and pain, the non-steroidal anti-inflammatory drug metamizole or scopolamine-based reference drug for biliary colic. The primary outcomes were symptoms and observed frequency of spasms, while the secondary outcome was the duration of improvement or the time between the drug administration and the recurrence of symptoms. Comparison of groups by quantitative characteristics was performed using the T-test for independent samples or the Mann-Whitney test. Intragroup comparisons were performed using the Wilcoxon test, or the T-test for linked samples. Qualitative signs were analysed using the Pearson's χ Results: The pharmacokinetic studies showed that (i) most of the phloroglucinol (> 80% for IV and per os formulations) was eliminated in the first 6 h after dosing, (ii) the drug was eliminated in urine as unchanged phloroglucinol (1,3,5-trihydroxybenzene) in a small proportion (< 3% of the dose) and (iii) a considerable amount of the drug was detected after enzymatic deconjugation with β-glucoronidase/arylsulfatase from Helix pomatia. As for the pharmacokinetic study, a total of 364 patients were enrolled, divided in four studies: two designed to test the effectiveness of oral and IM/IV preparations in biliary colic and two in urinary colic. Baseline characteristics between groups were similar. Phloroglucinol oral or IV/IM showed an effectiveness comparable to the reference drug in reducing pain and spasms associated with both urinary and biliary colic. There was no difference between all groups by survival analysis. Conclusion: Oral and parenteral preparations based on phloroglucinol are as effective in reducing pain and spasms associated with renal or biliary colic as current therapeutic options. Therefore, phloroglucinol may be considered as useful to treat pain and spasms associated with urinary and biliary colic.
MeSH term(s)	Humans ; Colic/drug therapy ; Phloroglucinol/adverse effects ; Quality of Life ; Anti-Inflammatory Agents, Non-Steroidal/therapeutic use ; Pain/drug therapy ; Pain/etiology ; Spasm/drug therapy ; Treatment Outcome
Chemical Substances	Phloroglucinol (DHD7FFG6YS) ; Anti-Inflammatory Agents, Non-Steroidal
Language	English
Publishing date	2022-11-29
Publishing country	United States
Document type	Multicenter Study ; Journal Article
ZDB-ID	632651-1
ISSN	1865-8652 ; 0741-238X
ISSN (online)	1865-8652
ISSN	0741-238X
DOI	10.1007/s12325-022-02347-3
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 2101: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: PIMREG expression level predicts glioblastoma patient survival and affects temozolomide resistance and DNA damage response.

Serafim, Rodolfo Bortolozo / Cardoso, Cibele / Arfelli, Vanessa Cristina / Valente, Valeria / Archangelo, Leticia Fröhlich

Biochimica et biophysica acta. Molecular basis of disease

2022 Volume 1868, Issue 6, Page(s) 166382

Abstract: PIMREG expression strongly correlates with cellular proliferation in both malignant and normal cells. Throughout embryo development, PIMREG expression is prominent in the central nervous system. Recent studies have described elevated PIMREG expression in ...

Abstract	PIMREG expression strongly correlates with cellular proliferation in both malignant and normal cells. Throughout embryo development, PIMREG expression is prominent in the central nervous system. Recent studies have described elevated PIMREG expression in different types of tumors, which correlates with patient survival and tumor aggressiveness. Given the emerging significance of PIMREG in carcinogenesis and its putative role in the context of the nervous system, we investigated the expression and function of PIMREG in gliomas, the most common primary brain tumors. We performed an extensive analysis of PIMREG expression in tumors samples from glioma patients. We then assessed the effects of PIMREG silencing and overexpression on the sensitivity of glioblastoma cell lines treated with genotoxic agents commonly used for treating patients and assessed for treatment response, proliferation and migration. Our analysis shows that glioblastoma exhibits the highest levels of PIMREG expression among all cancers analyzed and that elevated PIMREG expression is a biomarker for glioma progression and patient outcome. Moreover, PIMREG is induced by genotoxic agents, and its silencing renders glioblastoma cells sensitive to temozolomide treatment and affects ATR- and ATM-dependent signaling. Our data demonstrate that PIMREG is involved in DNA damage response and temozolomide resistance of glioblastoma cells and further supports a role for PIMREG in tumorigenesis.
MeSH term(s)	Antineoplastic Agents, Alkylating/pharmacology ; Antineoplastic Agents, Alkylating/therapeutic use ; Cell Line, Tumor ; DNA Damage ; Glioblastoma/drug therapy ; Glioblastoma/genetics ; Glioblastoma/metabolism ; Humans ; Temozolomide/pharmacology ; Temozolomide/therapeutic use
Chemical Substances	Antineoplastic Agents, Alkylating ; Temozolomide (YF1K15M17Y)
Language	English
Publishing date	2022-03-14
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	60-7
ISSN	1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650 ; 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
ISSN (online)	1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650
ISSN	0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
DOI	10.1016/j.bbadis.2022.166382
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Uc I Zs.247: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: What have we learned so far from the sex/gender issue in heart failure? An overview of current evidence.

Arcopinto, Michele / Valente, Valeria / Giardino, Federica / Marra, Alberto Maria / Cittadini, Antonio

Internal and emergency medicine

2022 Volume 17, Issue 6, Page(s) 1589–1598

Abstract: There are important differences in epidemiology, pathophysiology, HF patterns, prognosis, and treatment. Women have a higher incidence of HFpEF due to sex-specific factors (such as anthropometry, role of estrogens, pregnancy-related cardiomyopathies), ... ...

Abstract	There are important differences in epidemiology, pathophysiology, HF patterns, prognosis, and treatment. Women have a higher incidence of HFpEF due to sex-specific factors (such as anthropometry, role of estrogens, pregnancy-related cardiomyopathies), increased incidence of comorbidities, and gender-specific conditions. Men instead present a predisposition to the development of HFrEF due to a higher incidence of coronary artery disease and myocardial infarction. However, there are still gaps in the management of women with HF. The poor inclusion of women in clinical trials may have contributed to a lesser understanding of disease behavior than in men. In addition, a full understanding of gender-specific factors that are studied in small populations is lacking in the literature, and only in recent years, studies have increased their focus on this issue. Understanding how society, family, and environment affect the prognosis of HF patients may help clinicians provide more appropriate levels of care. In this overview, we aimed at summarizing all the key available evidence regarding sex/gender differences in heart failure.
MeSH term(s)	Female ; Heart Failure ; Humans ; Incidence ; Interpersonal Relations ; Male ; Pregnancy ; Prognosis ; Sex Factors ; Stroke Volume/physiology
Language	English
Publishing date	2022-06-30
Publishing country	Italy
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	2454173-4
ISSN	1970-9366 ; 1828-0447
ISSN (online)	1970-9366
ISSN	1828-0447
DOI	10.1007/s11739-022-03019-4
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 6673: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article: Macrophage Cell Membrane Coating on Piperine-Loaded MIL-100(Fe) Nanoparticles for Breast Cancer Treatment.

Quijia, Christian Rafael / Navegante, Geovana / Sábio, Rafael Miguel / Valente, Valeria / Ocaña, Alberto / Alonso-Moreno, Carlos / Frem, Regina Célia Galvão / Chorilli, Marlus

Journal of functional biomaterials

2023 Volume 14, Issue 6

Abstract: Piperine (PIP), a compound found ... ...

Abstract	Piperine (PIP), a compound found in
Language	English
Publishing date	2023-06-11
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2648525-4
ISSN	2079-4983
ISSN	2079-4983
DOI	10.3390/jfb14060319
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Vascular Function and Intima-Media Thickness in Children and Adolescents with Growth Hormone Deficiency: Results from a Prospective Case-Control Study.

Improda, Nicola / Moracas, Cristina / Mattace Raso, Giuseppina / Valente, Valeria / Crisci, Giulia / Lorello, Paola / Di Mase, Raffaella / Salerno, Mariacarolina / Capalbo, Donatella

Hormone research in paediatrics

2023 Volume 97, Issue 2, Page(s) 140–147

Abstract: Introduction: Growth hormone deficiency (GHD) may be associated with subtle cardiovascular abnormalities, reversible upon starting GH treatment. Data on vascular morphology and function in GHD children are scanty and inconclusive. The aim of our study ... ...

Abstract	Introduction: Growth hormone deficiency (GHD) may be associated with subtle cardiovascular abnormalities, reversible upon starting GH treatment. Data on vascular morphology and function in GHD children are scanty and inconclusive. The aim of our study was to evaluate the effects of GHD and GH treatment on endothelial function and intima-media thickness (IMT) in children and adolescents. Methods: We enrolled 24 children with GHD (10.85 ± 2.71 years) and 24 age-, sex-, and BMI-matched controls. We evaluated anthropometry, lipid profile, asymmetric dimethylarginine (ADMA), brachial flow-mediated dilatation (FMD), and IMT of common (cIMT) and internal (iIMT) carotid artery at study entry in all subjects and after 12 months of treatment in GHD children. Results: At baseline GHD, children had higher total cholesterol (163.17 ± 18.66 vs. 149.83 ± 20.68 mg/dL, p = 0.03), LDL cholesterol (91.18 ± 20.41 vs. 77.08 ± 19.73 mg/dL, p = 0.019), atherogenic index (AI) (2.94 ± 0.71 vs. 2.56 ± 0.4, p = 0.028), and ADMA (215.87 ± 109.15 vs. 164.10 ± 49.15 ng/mL, p < 0.001), compared to controls. GHD patients also exhibited increased higher waist-to-height ratio (WHtR) compared to controls (0.48 ± 0.05 vs. 0.45 ± 0.02 cm, p = 0.03). GH therapy resulted in a decrease in WHtR (0.44 ± 0.03 cm, p = 0.001), total (151.60 ± 15.23 mg/dL, p = 0.001) and LDL cholesterol (69.94 ± 14.40 mg/dL, p < 0.0001), AI (2.28 ± 0.35, p = 0.001), and ADMA (148.47 ± 102.43 ng/mL, p < 0.0001). GHD showed lower baseline FMD than controls (8.75 ± 2.44 vs. 11.85 ± 5.98%, p = 0.001), which improved after 1-year GH treatment (10.60 ± 1.69%, p = 0.001). Baseline cIMT and iIMT were comparable between the two groups, but slightly reduced in GHD patients after treatment. Conclusion: GHD children may exhibit endothelial dysfunction in addition to other early atherosclerotic markers like visceral adiposity, and altered lipids, which can be restored by GH treatment.
MeSH term(s)	Adolescent ; Child ; Humans ; Atherosclerosis ; Carotid Intima-Media Thickness ; Case-Control Studies ; Cholesterol, LDL ; Dwarfism, Pituitary ; Human Growth Hormone/therapeutic use
Chemical Substances	Cholesterol, LDL ; Human Growth Hormone (12629-01-5)
Language	English
Publishing date	2023-06-08
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2537278-6
ISSN	1663-2826 ; 1663-2818
ISSN (online)	1663-2826
ISSN	1663-2818
DOI	10.1159/000531473
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 414: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: HJURP is recruited to double-strand break sites and facilitates DNA repair by promoting chromatin reorganization.

Serafim, Rodolfo B / Cardoso, Cibele / Storti, Camila B / da Silva, Patrick / Qi, Hongyun / Parasuram, Ramya / Navegante, Geovana / Peron, Jean Pierre S / Silva, Wilson A / Espreafico, Enilza M / Paçó-Larson, Maria L / Price, Brendan D / Valente, Valeria

Oncogene

2024 Volume 43, Issue 11, Page(s) 804–820

Abstract: HJURP is overexpressed in several cancer types and strongly correlates with patient survival. However, the mechanistic basis underlying the association of HJURP with cancer aggressiveness is not well understood. HJURP promotes the loading of the histone ... ...

Abstract	HJURP is overexpressed in several cancer types and strongly correlates with patient survival. However, the mechanistic basis underlying the association of HJURP with cancer aggressiveness is not well understood. HJURP promotes the loading of the histone H3 variant, CENP-A, at the centromeric chromatin, epigenetically defining the centromeres and supporting proper chromosome segregation. In addition, HJURP is associated with DNA repair but its function in this process is still scarcely explored. Here, we demonstrate that HJURP is recruited to DSBs through a mechanism requiring chromatin PARylation and promotes epigenetic alterations that favor the execution of DNA repair. Incorporation of HJURP at DSBs promotes turnover of H3K9me3 and HP1, facilitating DNA damage signaling and DSB repair. Moreover, HJURP overexpression in glioma cell lines also affected global structure of heterochromatin independently of DNA damage induction, promoting genome-wide reorganization and assisting DNA damage response. HJURP overexpression therefore extensively alters DNA damage signaling and DSB repair, and also increases radioresistance of glioma cells. Importantly, HJURP expression levels in tumors are also associated with poor response of patients to radiation. Thus, our results enlarge the understanding of HJURP involvement in DNA repair and highlight it as a promising target for the development of adjuvant therapies that sensitize tumor cells to irradiation.
MeSH term(s)	Humans ; Centromere/metabolism ; Centromere Protein A/genetics ; Centromere Protein A/metabolism ; Chromatin/genetics ; Chromosomal Proteins, Non-Histone/genetics ; Chromosomal Proteins, Non-Histone/metabolism ; DNA Repair/genetics ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Glioma/genetics
Chemical Substances	Centromere Protein A ; Chromatin ; Chromosomal Proteins, Non-Histone ; DNA-Binding Proteins ; HJURP protein, human
Language	English
Publishing date	2024-01-26
Publishing country	England
Document type	Journal Article
ZDB-ID	639046-8
ISSN	1476-5594 ; 0950-9232
ISSN (online)	1476-5594
ISSN	0950-9232
DOI	10.1038/s41388-024-02937-1
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 2218: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Expanding SPG18 clinical spectrum: autosomal dominant mutation causes complicated hereditary spastic paraplegia in a large family.

Trinchillo, Assunta / Valente, Valeria / Esposito, Marcello / Migliaccio, Miriana / Iovino, Aniello / Picciocchi, Michele / Cuomo, Nunzia / Caccavale, Carmela / Nocerino, Cristofaro / De Rosa, Laura / Salvatore, Elena / Pierantoni, Giovanna Maria / Menchise, Valeria / Paladino, Simona / Criscuolo, Chiara

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

2024

Abstract: Background: SPG18 is caused by mutations in the endoplasmic reticulum lipid raft associated 2 (ERLIN2) gene. Autosomal recessive (AR) mutations are usually associated with complicated hereditary spastic paraplegia (HSP), while autosomal dominant (AD) ... ...

Abstract	Background: SPG18 is caused by mutations in the endoplasmic reticulum lipid raft associated 2 (ERLIN2) gene. Autosomal recessive (AR) mutations are usually associated with complicated hereditary spastic paraplegia (HSP), while autosomal dominant (AD) mutations use to cause pure SPG18. Aim: To define the variegate clinical spectrum of the SPG18 and to evaluate a dominant negative effect of erlin2 (encoded by ERLIN2) on oligomerization as causing differences between AR and AD phenotypes. Methods: In a four-generation pedigree with an AD pattern, a spastic paraplegia multigene panel test was performed. Oligomerization of erlin2 was analyzed with velocity gradient assay in fibroblasts of the proband and healthy subjects. Results: Despite the common p.V168M mutation identified in ERLIN2, a phenoconversion to amyotrophic lateral sclerosis (ALS) was observed in the second generation, pure HSP in the third generation, and a complicated form with psychomotor delay and epilepsy in the fourth generation. Erlin2 oligomerization was found to be normal. Discussion: We report the first AD SPG18 family with a complicated phenotype, and we ruled out a dominant negative effect of V168M on erlin2 oligomerization. Therefore, our data do not support the hypothesis of a relationship between the mode of inheritance and the phenotype, but confirm the multifaceted nature of SPG18 on both genetic and clinical point of view. Clinicians should be aware of the importance of conducting an in-depth clinical evaluation to unmask all the possible manifestations associated to an only apparently pure SPG18 phenotype. We confirm the genotype-phenotype correlation between V168M and ALS emphasizing the value of close follow-up.
Language	English
Publishing date	2024-04-12
Publishing country	Italy
Document type	Journal Article
ZDB-ID	2016546-8
ISSN	1590-3478 ; 1590-1874
ISSN (online)	1590-3478
ISSN	1590-1874
DOI	10.1007/s10072-024-07500-0
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 1877: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

To top

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito