Inborn errors of biliary canalicular transport systems.

Abstract:

:Cholestatic syndromes are inborn or acquired disorders of bile formation. In recent years, several inherited cholestatic syndromes were characterized at the molecular level: progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic cholestasis (BRIC). Both PFIC and BRIC were divided phenotypically in distinct subtypes; however, at the genotype level, these clinical entities overlap. PFIC starts in early childhood and progresses toward liver cirrhosis, which often requires liver transplantation within the first decade of life. The diagnosis of PFIC is usually made on the basis of clinical and laboratory findings but needs to be confirmed by genetic and histological analysis. Only recently was it recognized that BRIC, which was estimated as a milder form of PFIC-1, may be caused by more than one gene.

journal_name

Methods Enzymol

journal_title

Methods in enzymology

authors

Kubitz R,Keitel V,Häussinger D

doi

10.1016/S0076-6879(05)00031-5

subject

Has Abstract

pub_date

2005-01-01 00:00:00

pages

558-69

eissn

0076-6879

issn

1557-7988

pii

S0076-6879(05)00031-5

journal_volume

400

pub_type

杂志文章,评审
  • RNA folding during transcription: protocols and studies.

    abstract::RNA folds during transcription in the cell. Compared to most in vitro studies where the focus is generally on Mg(2+)-initiated refolding of fully synthesized transcripts, cotranscriptional RNA folding studies better replicate how RNA folds in a cellular environment. Unique aspects of cotranscriptional folding include ...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/S0076-6879(09)68009-5

    authors: Wong TN,Pan T

    更新日期:2009-01-01 00:00:00

  • Comet-FISH for Ultrasensitive Strand-Specific Detection of DNA Damage in Single Cells.

    abstract::The genome integrity of living organisms is constantly threatened by endogenous cellular metabolic processes and environmental agents. To quantify these low, physiologically relevant levels of DNA damage, a single-cell gel electrophoresis (comet) combined with strand-specific fluorescence in situ hybridization (FISH)-...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/bs.mie.2017.03.023

    authors: Mondal M,Guo J

    更新日期:2017-01-01 00:00:00

  • Live cell imaging with chemical specificity using dual frequency CARS microscopy.

    abstract::Live cell microscopy using fluorescent proteins and small fluorescent probes is a well-established and essential tool for cell biology; however, there is a considerable need for noninvasive techniques able to study tissue and cell dynamics without the need to introduce chemical or genetically encoded probes. Coherent ...

    journal_title:Methods in enzymology

    pub_type: 杂志文章,评审

    doi:10.1016/B978-0-12-391857-4.00014-8

    authors: Pope I,Langbein W,Borri P,Watson P

    更新日期:2012-01-01 00:00:00

  • Modeling of spatial intracellular signaling events in neurons.

    abstract::A neuron is able to seamlessly respond to a number of signals, in a timely and specific manner. This process, of integrating multiple inputs, relays on the orchestration of intracellular events by signaling networks. The inherent complexity of signaling networks has made computational modeling a useful approach to und...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/B978-0-12-388448-0.00014-0

    authors: Wenderski WC,Neves SR

    更新日期:2012-01-01 00:00:00

  • The role of EFA6, exchange factor for Arf6, for tight junction assembly, functions, and interaction with the actin cytoskeleton.

    abstract::In polarized epithelial cells, the tight junction has been ascribed several functions including the regulation of the paracellular permeability, an impediment to the diffusion of molecules between the apical and basolateral domains, a site of delivery of transport vesicles for basolateral proteins, and a scaffold for ...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/S0076-6879(05)04029-2

    authors: Luton F

    更新日期:2005-01-01 00:00:00

  • Detecting and tracking nonfluorescent nanoparticle probes in live cells.

    abstract::Precisely imaging and tracking dynamic biological processes in live cells are crucial for both fundamental research in life sciences and biomedical applications. Nonfluorescent nanoparticles are emerging as important optical probes in live-cell imaging because of their excellent photostability, large optical cross sec...

    journal_title:Methods in enzymology

    pub_type: 杂志文章,评审

    doi:10.1016/B978-0-12-391857-4.00004-5

    authors: Wang G,Fang N

    更新日期:2012-01-01 00:00:00

  • Assays for ubiquitin-like protein ligation and proteasome function in archaea.

    abstract::Ubiquitin-like protein (Ubl) ligation is common to diverse archaea and targets many cellular pathways, including those associated with sulfur mobilization, and also tags proteins as substrates for degradation by the proteasome. Here we highlight protocols to assay proteasome function and Ubl ligation in archaea. A cha...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/bs.mie.2018.12.036

    authors: Fu X,Adams Z,Maupin-Furlow J

    更新日期:2019-01-01 00:00:00

  • Use of laser microdissection in complex tissue.

    abstract::Concomitant with the rapid development in biomedical knowledge, including the methods of molecular biology and proteomics, and the manufacture of ever more precise optical instruments, powerful lasers, and sophisticated microcomputing hardware and software, laser microdissection systems have emerged which are now ente...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/s0076-6879(02)56935-4

    authors: Willenberg HS,Walters R,Bornstein SR

    更新日期:2002-01-01 00:00:00

  • Modeling DNA structures: molecular mechanics and molecular dynamics.

    abstract::Model building studies may be used to supplement structurally low resolution experimental data with detailed three-dimensional hypothetical atomic models. Because of the strong relation between structure and function in biological molecules such models may give a consistent, integral view of a wealth of experimental d...

    journal_title:Methods in enzymology

    pub_type: 杂志文章,评审

    doi:10.1016/0076-6879(92)11024-d

    authors: von Kitzing E

    更新日期:1992-01-01 00:00:00

  • T cell receptor engineering.

    abstract::T lymphocytes express on their surface a heterodimeric αβ receptor, called the T cell receptor (TCR), which recognizes foreign antigens. Unlike antibodies, the recognition requires both an antigenic peptide epitope and a protein encoded by the major histocompatibility complex (MHC). In contrast to conventional antibod...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/B978-0-12-396962-0.00008-2

    authors: Stone JD,Chervin AS,Aggen DH,Kranz DM

    更新日期:2012-01-01 00:00:00

  • Computational chemistry and molecular modeling of electron-transfer proteins.

    abstract::The methods of computational chemistry and molecular modeling are becoming more and more accessible to biochemists with the advent of fast, inexpensive graphics workstations and well-tested computer programs. The state of the art in small molecules allows chemists to use these programs as "black boxes" and be confiden...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/0076-6879(94)43042-x

    authors: Wampler JE

    更新日期:1994-01-01 00:00:00

  • Purification and use of granzyme B.

    abstract::Granzyme B (GrB) is the primary molecular mediator of apoptosis by cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells. It is a unique mammalian aspartic acid-cleaving serine protease. On T cell receptor activation, GrB is released from the CTL cytoplasmic granules by exocytosis, enters the target cells and, ...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/s0076-6879(00)22013-2

    authors: Shi L,Yang X,Froelich CJ,Greenberg AH

    更新日期:2000-01-01 00:00:00

  • Measurement of lipolysis products secreted by 3T3-L1 adipocytes using microfluidics.

    abstract::Glass microfluidic devices have been fabricated to monitor the secretion of glycerol or fatty acids from cultured murine 3T3-L1 adipocytes. In the current studies, adipocytes are perfused in a reversibly sealed cell chamber, and secreted products are analyzed by enzyme assay on either a single- or dual-chip device. Th...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/B978-0-12-800280-3.00011-6

    authors: Dugan CE,Kennedy RT

    更新日期:2014-01-01 00:00:00

  • Quantifying chromatin-associated interactions: the HI-FI system.

    abstract::Chromatin plays a vital role in regulating cellular processes that occur on the DNA. Modulation of chromatin structure is conducted through interactions with binding factors that direct critical actions such as posttranslational modifications, nucleosome remodeling, and incorporation of histone variants. Specific fact...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/B978-0-12-391940-3.00011-1

    authors: Winkler DD,Luger K,Hieb AR

    更新日期:2012-01-01 00:00:00

  • Scanning FCS for the characterization of protein dynamics in live cells.

    abstract::Scanning fluorescence correlation spectroscopy (sFCS) is the generic term for a group of fluorescence correlation techniques where the measurement volume is moved across the sample in a defined way. The introduction of scanning is motivated by its ability to alleviate or remove several distinct problems often encounte...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/S0076-6879(10)72005-X

    authors: Petrásek Z,Ries J,Schwille P

    更新日期:2010-01-01 00:00:00

  • Functional Study of the Vitamin K Cycle Enzymes in Live Cells.

    abstract::Vitamin K-dependent carboxylation, an essential posttranslational modification catalyzed by gamma-glutamyl carboxylase, is required for the biological functions of proteins that control blood coagulation, vascular calcification, bone metabolism, and other important physiological processes. Concomitant with carboxylati...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/bs.mie.2016.10.015

    authors: Tie JK,Stafford DW

    更新日期:2017-01-01 00:00:00

  • Integrin cytoskeletal interactions.

    abstract::Integrin adhesion receptors mediate cell-cell and cell-substratum adhesion and provide a continuous link for the bidirectional transmission of mechanical force and biochemical signals across the plasma membrane. Integrin-dependent cellular activities such as adhesion, migration, proliferation, and survival rely upon t...

    journal_title:Methods in enzymology

    pub_type: 杂志文章,评审

    doi:10.1016/S0076-6879(07)26004-5

    authors: Lad Y,Harburger DS,Calderwood DA

    更新日期:2007-01-01 00:00:00

  • High Content, Phenotypic Assays and Screens for Compounds Modulating Cellular Processes in Primary Neurons.

    abstract::High content, phenotypic screens offer a powerful approach to systems biology at the cellular level. The approach employs cells carrying fluorescently labeled molecules or organelles in 384- or 1536-well microplates, and an automated confocal screening microscope for capturing images from each well. Although some spec...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/bs.mie.2018.09.021

    authors: Kepiro M,Varkuti BH,Davis RL

    更新日期:2018-01-01 00:00:00

  • Site-specific analysis of the Asp- and Glu-ADP-ribosylated proteome by quantitative mass spectrometry.

    abstract::ADP-ribosylation is a protein post-translational modification that is critically involved in a wide array of biological processes connected to cell stress responses. Enzymes known as poly-ADP-ribose polymerases (PARPs) catalyze the addition of the ADP-ribose units to amino acids with various side chain chemistries. In...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/bs.mie.2019.06.024

    authors: Li P,Zhen Y,Yu Y

    更新日期:2019-01-01 00:00:00

  • X-ray microdiffraction of biominerals.

    abstract::Biominerals have complex and heterogeneous architectures, hence diffraction experiments with spatial resolutions between 500 nm and 10 μm are extremely useful to characterize them. X-ray beams in this size range are now routinely produced at many synchrotrons. This chapter provides a review of the different hard X-ray...

    journal_title:Methods in enzymology

    pub_type: 杂志文章,评审

    doi:10.1016/B978-0-12-416617-2.00021-7

    authors: Tamura N,Gilbert PU

    更新日期:2013-01-01 00:00:00

  • Anti-inflammatory and cytoprotective properties of hydrogen sulfide.

    abstract::Hydrogen sulfide is an endogenous gaseous mediator that plays important roles in many physiological processes in microbes, plants, and animals. This chapter focuses on the important roles of hydrogen sulfide in protecting tissues against injury, promoting the repair of damage, and downregulating the inflammatory respo...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/bs.mie.2014.11.034

    authors: Gemici B,Wallace JL

    更新日期:2015-01-01 00:00:00

  • Oxidative DNA glycosylases: recipes from cloning to characterization.

    abstract::As new organisms are being sequenced on a daily basis, new DNA glycosylases that recognize DNA damage can be easily identified in an effort to understand both their phylogenetics and substrate specificities. As a practical matter, existing bacterial and human homologs need to be readily available as laboratory reagent...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/S0076-6879(06)08002-5

    authors: Bandaru V,Blaisdell JO,Wallace SS

    更新日期:2006-01-01 00:00:00

  • In vitro systems for NEDD8 conjugation by Ubc12.

    abstract::Nedd8 is a ubiquitin-like molecule that is highly conserved in eukaryotes. Similar to ubiquitin, Nedd8 attaches to target proteins through an enzymatic cascade composed of Nedd8-specific E1 (activating)- and E2 (conjugating)-enzymes. The E1 for Nedd8 is a heterodimer of APP-BP1 and Uba3, while the E2 is Ubc12. The mos...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/S0076-6879(05)98007-5

    authors: Chiba T

    更新日期:2005-01-01 00:00:00

  • Rapid assessment of protein structural stability and fold validation via NMR.

    abstract::In structural proteomics, it is necessary to efficiently screen in a high-throughput manner for the presence of stable structures in proteins that can be subjected to subsequent structure determination by X-ray or NMR spectroscopy. Here we illustrate that the (1)H chemical distribution in a protein as detected by (1)H...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/S0076-6879(05)94006-8

    authors: Hoffmann B,Eichmüller C,Steinhauser O,Konrat R

    更新日期:2005-01-01 00:00:00

  • Production of bacterial cellulose with controlled deuterium-hydrogen substitution for neutron scattering studies.

    abstract::Isotopic enrichment of biomacromolecules is a widely used technique that enables the investigation of the structural and dynamic properties to provide information not accessible with natural abundance isotopic composition. This study reports an approach for deuterium incorporation into bacterial cellulose. A media for...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/bs.mie.2015.08.031

    authors: O'Neill H,Shah R,Evans BR,He J,Pingali SV,Chundawat SP,Jones AD,Langan P,Davison BH,Urban V

    更新日期:2015-01-01 00:00:00

  • Use of sec mutants to define intermediates in protein transport from endoplasmic reticulum.

    abstract::In this chapter we have discussed the methodology used to identify and characterize three intermediates in protein transport from the ER that represent stages of transport vesicle budding, targeting, and fusion. The intermediates are obtained using a variety of transport inhibitors: low-temperature incubations, additi...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/0076-6879(92)19028-5

    authors: Rexach MF,Schekman RW

    更新日期:1992-01-01 00:00:00

  • Study of Chemotaxis and Cell-Cell Interactions in Cancer with Microfluidic Devices.

    abstract::Microfluidic devices have very broad applications in biological assays from simple chemotaxis assays to much more complicated 3D bioreactors. In this chapter, we describe the design and methods for performing chemotaxis assays using simple microfluidic chemotaxis chambers. With these devices, using real-time video mic...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/bs.mie.2015.09.023

    authors: Sai J,Rogers M,Hockemeyer K,Wikswo JP,Richmond A

    更新日期:2016-01-01 00:00:00

  • RAG and HMGB1 proteins: purification and biochemical analysis of recombination signal complexes.

    abstract::Two lymphoid cell-specific proteins, called RAG-1 and RAG-2, initiate the process of antigen receptor gene rearrangement, termed V(D)J recombination, by assembling a protein-DNA complex with two recombination signal sequences (RSSs), each of which adjoins a different receptor gene segment, and then introducing a DNA d...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/S0076-6879(06)08032-3

    authors: Bergeron S,Anderson DK,Swanson PC

    更新日期:2006-01-01 00:00:00

  • Application of mesoporous silica nanoparticles in intracellular delivery of molecules and proteins.

    abstract::Delivery of drugs and molecules to eukaryote animal and plant cells can be enhanced when mediated by mesoporous silica nanoparticle (MSN) materials. This chapter describes, in detail, the synthesis of several different MSN materials used for the transport of various hydrophilic and hydrophobic drug molecules, neurotra...

    journal_title:Methods in enzymology

    pub_type: 杂志文章,评审

    doi:10.1016/B978-0-12-391860-4.00003-3

    authors: Fang IJ,Trewyn BG

    更新日期:2012-01-01 00:00:00

  • Intra- and extracellular modifications of apolipoproteins.

    abstract::This chapter outlined the methods used to study intra- and extracellular modifications of apolipoproteins. These and other related studies have shown that several of the apolipoproteins undergo a series of intra- and extracellular modifications as follows: All apolipoproteins studied contain an 18-26 long signal pepti...

    journal_title:Methods in enzymology

    pub_type: 杂志文章

    doi:10.1016/0076-6879(86)28100-8

    authors: Zannis VI,Karathanasis SK,Forbes GM,Breslow JL

    更新日期:1986-01-01 00:00:00