LIVIVO - Search results -

Search results

Result 1 - 10 of total 21

Search options

Article: New-Onset Headache and Abnormal Eye Movements in a Four-Year-Old Child: Indicators of Increased Intracranial Pressure.

Miller, Sarah C / Stafstrom, Carl E

2022 Volume 14, Issue 7, Page(s) e26850

Abstract: A four-year-old previously healthy child presented with new-onset, diffuse, severe headache, and left sixth nerve palsy. The child was evaluated at several acute care facilities, at which the symptom of "crossing eyes" was not addressed specifically. At ... ...

Abstract	A four-year-old previously healthy child presented with new-onset, diffuse, severe headache, and left sixth nerve palsy. The child was evaluated at several acute care facilities, at which the symptom of "crossing eyes" was not addressed specifically. At our emergency department, on day 6 of symptoms, a left cranial nerve 6 palsy was diagnosed; on brain MRI scan, there was evidence of increased intracranial pressure (distended optic nerve sheaths, flattened posterior sclerae), which was confirmed by lumbar puncture, which showed an opening pressure of >36 cm H
Language	English
Publishing date	2022-07-14
Publishing country	United States
Document type	Case Reports
ZDB-ID	2747273-5
ISSN	2168-8184
ISSN	2168-8184
DOI	10.7759/cureus.26850
Database	MEDical Literature Analysis and Retrieval System OnLINE

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.

Article ; Online: Loss of Preproinsulin Interaction with Signal Recognition Particle Activates Protein Quality Control, Decreasing mRNA Stability.

Miller, Sarah C / Tikhonova, Elena B / Hernandez, Sarah M / Dufour, Jannette M / Karamyshev, Andrey L

Journal of molecular biology

2024 Volume 436, Issue 6, Page(s) 168492

Abstract: Many insulin gene variants alter the protein sequence and result in monogenic diabetes due to insulin insufficiency. However, the molecular mechanisms of various disease-causing mutations are unknown. Insulin is synthesized as preproinsulin containing a ... ...

Abstract	Many insulin gene variants alter the protein sequence and result in monogenic diabetes due to insulin insufficiency. However, the molecular mechanisms of various disease-causing mutations are unknown. Insulin is synthesized as preproinsulin containing a signal peptide (SP). SPs of secreted proteins are recognized by the signal recognition particle (SRP) or by another factor in a SRP-independent pathway. If preproinsulin uses SRP-dependent or independent pathways is still debatable. We demonstrate by the use of site-specific photocrosslinking that the SRP subunit, SRP54, interacts with the preproinsulin SP. Moreover, SRP54 depletion leads to the decrease of insulin mRNA and protein expression, supporting the involvement of the RAPP protein quality control in insulin biogenesis. RAPP regulates the quality of secretory proteins through degradation of their mRNA. We tested five disease-causing mutations in the preproinsulin SP on recognition by SRP and on their effects on mRNA and protein levels. We demonstrate that the effects of mutations are associated with their position in the SP and their severity. The data support diverse molecular mechanisms involved in the pathogenesis of these mutations. We show for the first time the involvement of the RAPP protein quality control pathway in insulin biogenesis that is implicated in the development of neonatal diabetes caused by the Leu13Arg mutation.
MeSH term(s)	Humans ; Infant, Newborn ; Diabetes Mellitus ; Insulin/genetics ; Insulin/metabolism ; Protein Precursors/metabolism ; Protein Sorting Signals/genetics ; RNA Stability ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Signal Recognition Particle/metabolism
Chemical Substances	Insulin ; preproinsulin (61116-24-3) ; Protein Precursors ; Protein Sorting Signals ; RNA, Messenger ; Signal Recognition Particle ; SRP54 protein, human
Language	English
Publishing date	2024-02-14
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	80229-3
ISSN	1089-8638 ; 0022-2836
ISSN (online)	1089-8638
ISSN	0022-2836
DOI	10.1016/j.jmb.2024.168492
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 867: 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: Specialized Ribosomes in Health and Disease.

Miller, Sarah C / MacDonald, Clinton C / Kellogg, Morgana K / Karamysheva, Zemfira N / Karamyshev, Andrey L

International journal of molecular sciences

2023 Volume 24, Issue 7

Abstract: Ribosomal heterogeneity exists within cells and between different cell types, at specific developmental stages, and occurs in response to environmental stimuli. Mounting evidence supports the existence of specialized ribosomes, or specific changes to the ...

Abstract	Ribosomal heterogeneity exists within cells and between different cell types, at specific developmental stages, and occurs in response to environmental stimuli. Mounting evidence supports the existence of specialized ribosomes, or specific changes to the ribosome that regulate the translation of a specific group of transcripts. These alterations have been shown to affect the affinity of ribosomes for certain mRNAs or change the cotranslational folding of nascent polypeptides at the exit tunnel. The identification of specialized ribosomes requires evidence of the incorporation of different ribosomal proteins or of modifications to rRNA and/or protein that lead(s) to physiologically relevant changes in translation. In this review, we summarize ribosomal heterogeneity and specialization in mammals and discuss their relevance to several human diseases.
MeSH term(s)	Animals ; Humans ; Protein Biosynthesis ; Ribosomes/metabolism ; Ribosomal Proteins/genetics ; Ribosomal Proteins/metabolism ; RNA, Ribosomal/genetics ; Peptides/metabolism ; Mammals/metabolism
Chemical Substances	Ribosomal Proteins ; RNA, Ribosomal ; Peptides
Language	English
Publishing date	2023-03-28
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/ijms24076334
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: SRPassing Co-translational Targeting: The Role of the Signal Recognition Particle in Protein Targeting and mRNA Protection.

Kellogg, Morgana K / Miller, Sarah C / Tikhonova, Elena B / Karamyshev, Andrey L

International journal of molecular sciences

2021 Volume 22, Issue 12

Abstract: Signal recognition particle (SRP) is an RNA and protein complex that exists in all domains of life. It consists of one protein and one noncoding RNA in some bacteria. It is more complex in eukaryotes and consists of six proteins and one noncoding RNA in ... ...

Abstract	Signal recognition particle (SRP) is an RNA and protein complex that exists in all domains of life. It consists of one protein and one noncoding RNA in some bacteria. It is more complex in eukaryotes and consists of six proteins and one noncoding RNA in mammals. In the eukaryotic cytoplasm, SRP co-translationally targets proteins to the endoplasmic reticulum and prevents misfolding and aggregation of the secretory proteins in the cytoplasm. It was demonstrated recently that SRP also possesses an earlier unknown function, the protection of mRNAs of secretory proteins from degradation. In this review, we analyze the progress in studies of SRPs from different organisms, SRP biogenesis, its structure, and function in protein targeting and mRNA protection.
MeSH term(s)	Animals ; Evolution, Molecular ; Humans ; Protein Biosynthesis ; Protein Transport ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Signal Recognition Particle/chemistry ; Signal Recognition Particle/metabolism
Chemical Substances	RNA, Messenger ; Signal Recognition Particle
Language	English
Publishing date	2021-06-11
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/ijms22126284
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Pathogenic signal peptide variants in the human genome.

Gutierrez Guarnizo, Sneider Alexander / Kellogg, Morgana K / Miller, Sarah C / Tikhonova, Elena B / Karamysheva, Zemfira N / Karamyshev, Andrey L

NAR genomics and bioinformatics

2023 Volume 5, Issue 4, Page(s) lqad093

Abstract: Secreted and membrane proteins represent a third of all cellular proteins and contain N-terminal signal peptides that are required for protein targeting to endoplasmic reticulum (ER). Mutations in signal peptides affect protein targeting, translocation, ... ...

Abstract	Secreted and membrane proteins represent a third of all cellular proteins and contain N-terminal signal peptides that are required for protein targeting to endoplasmic reticulum (ER). Mutations in signal peptides affect protein targeting, translocation, processing, and stability, and are associated with human diseases. However, only a few of them have been identified or characterized. In this report, we identified pathogenic signal peptide variants across the human genome using bioinformatic analyses and predicted the molecular mechanisms of their pathology. We recovered more than 65 thousand signal peptide mutations, over 11 thousand we classified as pathogenic, and proposed framework for distinction of their molecular mechanisms. The pathogenic mutations affect over 3.3 thousand genes coding for secreted and membrane proteins. Most pathogenic mutations alter the signal peptide hydrophobic core, a critical recognition region for the signal recognition particle, potentially activating the Regulation of Aberrant Protein Production (RAPP) quality control and specific mRNA degradation. The remaining pathogenic variants (about 25%) alter either the N-terminal region or signal peptidase processing site that can result in translocation deficiencies at the ER membrane or inhibit protein processing. This work provides a conceptual framework for the identification of mutations across the genome and their connection with human disease.
Language	English
Publishing date	2023-10-18
Publishing country	England
Document type	Journal Article
ISSN	2631-9268
ISSN (online)	2631-9268
DOI	10.1093/nargab/lqad093
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Impact of Amyloid Polymorphism on Prion-Chaperone Interactions in Yeast.

Killian, Andrea N / Miller, Sarah C / Hines, Justin K

Viruses

2019 Volume 11, Issue 4

Abstract: Yeast prions are protein-based genetic elements found in the baker's ... ...

Abstract	Yeast prions are protein-based genetic elements found in the baker's yeast
MeSH term(s)	Amyloid/chemistry ; Amyloid/genetics ; Amyloid/metabolism ; Amyloidogenic Proteins/chemistry ; Amyloidogenic Proteins/genetics ; Amyloidogenic Proteins/metabolism ; Models, Biological ; Molecular Chaperones/chemistry ; Molecular Chaperones/genetics ; Molecular Chaperones/metabolism ; Prions/chemistry ; Prions/genetics ; Prions/metabolism ; Protein Interaction Domains and Motifs ; Saccharomyces cerevisiae/genetics ; Saccharomyces cerevisiae/metabolism ; Saccharomyces cerevisiae Proteins/chemistry ; Saccharomyces cerevisiae Proteins/genetics ; Saccharomyces cerevisiae Proteins/metabolism
Chemical Substances	Amyloid ; Amyloidogenic Proteins ; Molecular Chaperones ; Prions ; Saccharomyces cerevisiae Proteins
Language	English
Publishing date	2019-04-16
Publishing country	Switzerland
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2516098-9
ISSN	1999-4915 ; 1999-4915
ISSN (online)	1999-4915
ISSN	1999-4915
DOI	10.3390/v11040349
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Hsp40/JDP Requirements for the Propagation of Synthetic Yeast Prions.

Miller, Sarah C / Wegrzynowicz, Andrea K / Cole, Sierra J / Hayward, Rachel E / Ganser, Samantha J / Hines, Justin K

Viruses

2022 Volume 14, Issue 10

Abstract: Yeast prions are protein-based transmissible elements, most of which are amyloids. The chaperone protein network in yeast is inexorably linked to the spreading of prions during cell division by fragmentation of amyloid prion aggregates. Specifically, the ...

Abstract	Yeast prions are protein-based transmissible elements, most of which are amyloids. The chaperone protein network in yeast is inexorably linked to the spreading of prions during cell division by fragmentation of amyloid prion aggregates. Specifically, the core "prion fragmentation machinery" includes the proteins Hsp104, Hsp70 and the Hsp40/J-domain protein (JDP) Sis1. Numerous novel amyloid-forming proteins have been created and examined in the yeast system and occasionally these amyloids are also capable of continuous Hsp104-dependent propagation in cell populations, forming synthetic prions. However, additional chaperone requirements, if any, have not been determined. Here, we report the first instances of a JDP-Hsp70 system requirement for the propagation of synthetic prions. We utilized constructs from a system of engineered prions with prion-forming domains (PrDs) consisting of a polyQ stretch interrupted by a single heterologous amino acid interspersed every fifth residue. These "polyQX" PrDs are fused to the MC domains of Sup35, creating chimeric proteins of which a subset forms synthetic prions in yeast. For four of these prions, we show that
MeSH term(s)	Saccharomyces cerevisiae/genetics ; Saccharomyces cerevisiae/metabolism ; Prions/chemistry ; Saccharomyces cerevisiae Proteins/chemistry ; Molecular Chaperones/metabolism ; HSP70 Heat-Shock Proteins/metabolism ; Amyloid/chemistry ; Amyloidogenic Proteins/metabolism ; Amino Acids/metabolism ; Recombinant Fusion Proteins/metabolism ; Heat-Shock Proteins/genetics ; Heat-Shock Proteins/metabolism ; Peptide Termination Factors/genetics ; Peptide Termination Factors/metabolism
Chemical Substances	Prions ; Saccharomyces cerevisiae Proteins ; Molecular Chaperones ; HSP70 Heat-Shock Proteins ; Amyloid ; Amyloidogenic Proteins ; Amino Acids ; Recombinant Fusion Proteins ; HsP104 protein, S cerevisiae (143012-44-6) ; Heat-Shock Proteins ; SUP35 protein, S cerevisiae ; Peptide Termination Factors
Language	English
Publishing date	2022-09-30
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	2516098-9
ISSN	1999-4915 ; 1999-4915
ISSN (online)	1999-4915
ISSN	1999-4915
DOI	10.3390/v14102160
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Perspectives of Resident and Attending Ophthalmologists on Common Ethical Dilemmas in Research.

Miller, Sarah C / Tsou, Brittany C / Fliotsos, Michael J / Legault, Gary L / Wang, Jiangxia / Mondzelewski, Todd J / Munson, Patrick D / Lorch, Alice / Green, Laura K / Kim, Won I / Pelton, Ron W / Woreta, Fasika A / Justin, Grant A

Journal of academic ophthalmology (2017)

2023 Volume 15, Issue 2, Page(s) e237–e242

Abstract: ... ...

Abstract	Purpose
Language	English
Publishing date	2023-11-07
Publishing country	United States
Document type	Journal Article
ZDB-ID	2897840-7
ISSN	2475-4757 ; 2475-4757
ISSN (online)	2475-4757
ISSN	2475-4757
DOI	10.1055/s-0043-1774394
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Multimodal Long Noncoding RNA Interaction Networks: Control Panels for Cell Fate Specification.

Smith, Keriayn N / Miller, Sarah C / Varani, Gabriele / Calabrese, J Mauro / Magnuson, Terry

Genetics

2019 Volume 213, Issue 4, Page(s) 1093–1110

Abstract: Lineage specification in early development is the basis for the exquisitely precise body plan of multicellular organisms. It is therefore critical to understand cell fate decisions in early development. Moreover, for regenerative medicine, the accurate ... ...

Abstract	Lineage specification in early development is the basis for the exquisitely precise body plan of multicellular organisms. It is therefore critical to understand cell fate decisions in early development. Moreover, for regenerative medicine, the accurate specification of cell types to replace damaged/diseased tissue is strongly dependent on identifying determinants of cell identity. Long noncoding RNAs (lncRNAs) have been shown to regulate cellular plasticity, including pluripotency establishment and maintenance, differentiation and development, yet broad phenotypic analysis and the mechanistic basis of their function remains lacking. As components of molecular condensates, lncRNAs interact with almost all classes of cellular biomolecules, including proteins, DNA, mRNAs, and microRNAs. With functions ranging from controlling alternative splicing of mRNAs, to providing scaffolding upon which chromatin modifiers are assembled, it is clear that at least a subset of lncRNAs are far from the transcriptional noise they were once deemed. This review highlights the diversity of lncRNA interactions in the context of cell fate specification, and provides examples of each type of interaction in relevant developmental contexts. Also highlighted are experimental and computational approaches to study lncRNAs.
MeSH term(s)	Cell Lineage/genetics ; Chromatin/metabolism ; Gene Regulatory Networks ; Humans ; Models, Biological ; Protein Stability ; RNA, Long Noncoding/chemistry ; RNA, Long Noncoding/genetics
Chemical Substances	Chromatin ; RNA, Long Noncoding
Language	English
Publishing date	2019-12-03
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Review
ZDB-ID	2167-2
ISSN	1943-2631 ; 0016-6731
ISSN (online)	1943-2631
ISSN	0016-6731
DOI	10.1534/genetics.119.302661
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.B 767: 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 ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Ghost and Honorary Authorship in Ophthalmology: A Cross-Sectional Survey.

Justin, Grant A / Miller, Sarah C / Tsou, Brittany / Li, Ximin / Purt, Boonkit / Fliotsos, Michael J / Zhao, Jiawei / Gardner, S Elliott / Legault, Gary L / Yonekawa, Yoshihiro / Rapuano, Christopher J / Woreta, Fasika A / Pelton, Ron W

American journal of ophthalmology

2022 Volume 240, Page(s) 67–78

Abstract: Purpose: To evaluate the rates of ghost and honorary authorship in ophthalmology and to determine risk factors associated with ghost and honorary authorship.: Design: Cross-sectional survey.: Methods: Corresponding authors of articles published in ...

Abstract	Purpose: To evaluate the rates of ghost and honorary authorship in ophthalmology and to determine risk factors associated with ghost and honorary authorship. Design: Cross-sectional survey. Methods: Corresponding authors of articles published in Ophthalmology, JAMA Ophthalmology, and the American Journal of Ophthalmology from June 2019 to December 2020 were emailed an electronic survey. The rates of ghost and honorary authorship, demographic characteristics of the corresponding authors with and without ghost and honorary authorship, and risk factors for ghost and honorary authorship were evaluated. Results: Corresponding authors (n = 830) were emailed a survey and 278 total responses (34.1%) were received; 227 responses (27.9%) were complete and included for analysis. Most respondents (n = 206, 90.7%) believed that the International Committee of Medical Journal Editors (ICMJE) guidelines for authorship adequately address criteria for authorship. Twenty-seven corresponding authors (11.9%) reported characteristics of their articles that indicated the presence of both ghost and honorary authorship (95% CI, 7.7%-16.1%). One hundred fifteen (50.7%) reported honorary authorship (44.2%-57.2%), and 37 (16.3%) indicated ghost authorship (11.5%-21.1%). Being a resident or fellow corresponding author increased the risk of honorary authorship (OR 11.75; 1.91-231.57; P = .03). There were no factors that predicted articles having ghost authors. Conclusions: While many authors believe the ICMJE guidelines for authorship comprehensively delineate fair authorship practices, listing authors on scientific publications honorarily and excluding authors who qualify for authorship are relatively common practices in ophthalmological research. Further investigation into the drivers of honorary and ghost authorship practices in ophthalmology, and the effectiveness of preventive measures are needed to ensure fair authorship attributions.
MeSH term(s)	Authorship ; Cross-Sectional Studies ; Humans ; Ophthalmology ; Publishing ; Surveys and Questionnaires
Language	English
Publishing date	2022-02-25
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	80030-2
ISSN	1879-1891 ; 0002-9394
ISSN (online)	1879-1891
ISSN	0002-9394
DOI	10.1016/j.ajo.2022.02.012
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

Ul I Zs.39: 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 ▾

To top

More links

Kategorien

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

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

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