相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。CRISPR-Cas9: A Preclinical and Clinical Perspective for the Treatment of Human Diseases
Garima Sharma et al.
MOLECULAR THERAPY (2021)
A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3
Cristina Martin-Higueras et al.
KIDNEY INTERNATIONAL (2021)
Nedosiran Dramatically Reduces Serum Oxalate in Dialysis-Dependent Primary Hyperoxaluria 1: A Compassionate Use Case Report
Kevin Shee et al.
UROLOGY (2021)
Novel therapeutic approaches for the primary hyperoxalurias
Ruth Belostotsky et al.
PEDIATRIC NEPHROLOGY (2021)
Generalizable sgRNA design for improved CRISPR/Cas9 editing efficiency
Kasidet Hiranniramol et al.
BIOINFORMATICS (2020)
Oxalobacter formigenes treatment combined with intensive dialysis lowers plasma oxalate and halts disease progression in a patient with severe infantile oxalosis
Lars Pape et al.
PEDIATRIC NEPHROLOGY (2020)
CRISPR/Cas9-mediated metabolic pathway reprogramming in a novel humanized rat model ameliorates primary hyperoxaluria type 1
Rui Zheng et al.
KIDNEY INTERNATIONAL (2020)
Recent Advances in CRISPR/Cas9 Delivery Strategies
Bon Ham Yip
BIOMOLECULES (2020)
Stiripentol fails to lower plasma oxalate in a dialysis-dependent PH1 patient
Caroline Kempf et al.
PEDIATRIC NEPHROLOGY (2020)
CRISPR Gene Therapy: Applications, Limitations, and Implications for the Future
Fathema Uddin et al.
FRONTIERS IN ONCOLOGY (2020)
Pyridoxine Responsiveness in a Type 1 Primary Hyperoxaluria Patient With a Rare (Atypical) AGXT Gene Mutation
Prince Singh et al.
KIDNEY INTERNATIONAL REPORTS (2020)
LB002ILLUMINATE-A, A PHASE 3 STUDY OF LUMASIRAN, AN INVESTIGATIONAL RNAI THERAPEUTIC, IN CHILDREN AND ADULTS WITH PRIMARY HYPEROXALURIA TYPE 1 (PH1)
Sander Garrelfs et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2020)
Transplantation for Primary Hyperoxaluria Type 1: Designing New Strategies in the Era of Promising Therapeutic Perspectives
Arnaud Devresse et al.
KIDNEY INTERNATIONAL REPORTS (2020)
A Prospective, Double-Blind, Randomized, Placebo-Controlled, Crossover Study Using an Orally Administered Oxalate Decarboxylase (OxDC)
Emily Quintero et al.
KIDNEY360 (2020)
Dapansutrile, an oral selective NLRP3 inflammasome inhibitor, for treatment of gout flares: an open-label, dose-adaptive, proof-of-concept, phase 2a trial
Viola Kluck et al.
LANCET RHEUMATOLOGY (2020)
ALLN-177, oral enzyme therapy for hyperoxaluria
James E. Lingeman et al.
INTERNATIONAL UROLOGY AND NEPHROLOGY (2019)
Identification of preexisting adaptive immunity to Cas9 proteins in humans
Carsten T. Charlesworth et al.
NATURE MEDICINE (2019)
Systemic Alanine Glyoxylate Aminotransferase mRNA Improves Glyoxylate Metabolism in a Mouse Model of Primary Hyperoxaluria Type 1
Anjli Kukreja et al.
NUCLEIC ACID THERAPEUTICS (2019)
Stiripentol protects against calcium oxalate nephrolithiasis and ethylene glycol poisoning
Marine Le Dudal et al.
JOURNAL OF CLINICAL INVESTIGATION (2019)
The role of inflammasomes in kidney disease
Takanori Komada et al.
NATURE REVIEWS NEPHROLOGY (2019)
Generation of induced pluripotent stem cells-derived hepatocyte-like cells for ex vivo gene therapy of primary hyperoxaluria type 1
Julie Esteve et al.
STEM CELL RESEARCH (2019)
TNFR1 and TNFR2 in the Control of the Life and Death Balance of Macrophages
Harald Wajant et al.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2019)
Comparison between Lipofectamine RNAiMAX and GenMute transfection agents in two cellular models of human hepatoma
Clarissa Berardo et al.
EUROPEAN JOURNAL OF HISTOCHEMISTRY (2019)
Targeted gene therapy in human-induced pluripotent stem cells from a patient with primary hyperoxaluria type 1 using CRISPR/Cas9 technology
Julie Esteve et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2019)
Stiripentol: A Review in Dravet Syndrome
James E. Frampton
DRUGS (2019)
Molecular basis of primary hyperoxaluria: clues to innovative treatments
Mirco Dindo et al.
UROLITHIASIS (2019)
The NLRP3 inflammasome: molecular activation and regulation to therapeutics
Karen V. Swanson et al.
NATURE REVIEWS IMMUNOLOGY (2019)
Correlation between the molecular effects of mutations at the dimer interface of alanine-glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B6
Mirco Dindo et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2018)
A randomised Phase II/III study to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria
Dawn Milliner et al.
UROLITHIASIS (2018)
CRISPR RNAs trigger innate immune responses in human cells
Sojung Kim et al.
GENOME RESEARCH (2018)
Recipient characteristics and morbidity and mortality after liver transplantation
Sumeet K. Asrani et al.
JOURNAL OF HEPATOLOGY (2018)
Translation inhibition corrects aberrant localization of mutant alanine-glyoxylate aminotransferase: possible therapeutic approach for hyperoxaluria
Ruth Belostotsky et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2018)
The macrophage phenotype and inflammasome component NLRP3 contributes to nephrocalcinosis-related chronic kidney disease independent from IL-1-mediated tissue injury
Hans-Joachim Anders et al.
KIDNEY INTERNATIONAL (2018)
Specific Inhibition of Hepatic Lactate Dehydrogenase Reduces Oxalate Production in Mouse Models of Primary Hyperoxaluria
Chengjung Lai et al.
MOLECULAR THERAPY (2018)
p53 inhibits CRISPR-Cas9 engineering in human pluripotent stem cells
Robert J. Ihry et al.
NATURE MEDICINE (2018)
OLT1177, a ß-sulfonyl nitrile compound, safe in humans, inhibits the NLRP3 inflammasome and reverses the metabolic cost of inflammation
Carlo Marchetti et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
GalNAc-siRNA Conjugates: Leading the Way for Delivery of RNAi Therapeutics
Aaron D. Springer et al.
NUCLEIC ACID THERAPEUTICS (2018)
Review of CRISPR/Cas9 sgRNA Design Tools
Yingbo Cui et al.
INTERDISCIPLINARY SCIENCES-COMPUTATIONAL LIFE SCIENCES (2018)
Betaine in inflammation: Mechanistic Aspects and Applications
Guangfu Zhao et al.
FRONTIERS IN IMMUNOLOGY (2018)
Metabolic profile and impact of diet in patients with primary hyperoxaluria
Roswitha Siener et al.
INTERNATIONAL UROLOGY AND NEPHROLOGY (2018)
CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I
Nerea Zabaleta et al.
NATURE COMMUNICATIONS (2018)
Hyperoxaluria Requires TNF Receptors to Initiate Crystal Adhesion and Kidney Stone Disease
Shrikant R. Mulay et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2017)
A randomised Phase I/II trial to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria
Bernd Hoppe et al.
PEDIATRIC NEPHROLOGY (2017)
Myeloid-derived miR-223 regulates intestinal inflammation via repression of the NLRP3 inflammasome
Viola Neudecker et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2017)
Use of polymer conjugates for the intraperoxisomal delivery of engineered human alanine: glyoxylate aminotransferase as a protein therapy for primary hyperoxaluria type I
Alessandro Roncador et al.
NANOMEDICINE-NANOTECHNOLOGY BIOLOGY AND MEDICINE (2017)
In vitro and in vivo safety evaluation of Nephure™
Helena Cowley et al.
REGULATORY TOXICOLOGY AND PHARMACOLOGY (2017)
Gut microbiota and oxalate homeostasis
Marguerite Hatch
ANNALS OF TRANSLATIONAL MEDICINE (2017)
Helper-dependent adenoviral vectors for liver-directed gene therapy of primary hyperoxaluria type 1
R. Castello et al.
GENE THERAPY (2016)
Rationally engineered Cas9 nucleases with improved specificity
Ian M. Slaymaker et al.
SCIENCE (2016)
Oxalate-degrading microorganisms or oxalate-degrading enzymes: which is the future therapy for enzymatic dissolution of calcium-oxalate uroliths in recurrent stone disease?
Ammon B. Peck et al.
UROLITHIASIS (2016)
A Double-Blind, Placebo Controlled, Randomized Phase 1 Cross-Over Study with ALLN-177, an Orally Administered Oxalate Degrading Enzyme
Craig B. Langman et al.
AMERICAN JOURNAL OF NEPHROLOGY (2016)
Oxalate, inflammasome, and progression of kidney disease
Theresa Ermer et al.
CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION (2016)
Effect of Anakinra on Recurrent Pericarditis Among Patients With Colchicine Resistance and Corticosteroid Dependence The AIRTRIP Randomized Clinical Trial
Antonio Brucato et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2016)
An NLRP3-specific inflammasome inhibitor attenuates crystal-induced kidney fibrosis in mice
Isis Ludwig-Portugall et al.
KIDNEY INTERNATIONAL (2016)
Genome Engineering Using Adeno-associated Virus: Basic and Clinical Research Applications
Thomas Gaj et al.
MOLECULAR THERAPY (2016)
Glycolate Oxidase Is a Safe and Efficient Target for Substrate Reduction Therapy in a Mouse Model of Primary Hyperoxaluria Type I
Cristina Martin-Higueras et al.
MOLECULAR THERAPY (2016)
High-fidelity CRISPR-Cas9 nucleases with no detectable genome-wide off-target effects
Benjamin P. Kleinstiver et al.
NATURE (2016)
Safety and Efficacy of Anakinra in Severe Hidradenitis Suppurativa A Randomized Clinical Trial
Vassiliki Tzanetakou et al.
JAMA DERMATOLOGY (2016)
Inhibition of nonhomologous end joining to increase the specificity of CRISPR/Cas9 genome editing
Supriya V. Vartak et al.
FEBS JOURNAL (2015)
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria
Katharina Hopp et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2015)
Increasing the efficiency of homology-directed repair for CRISPR-Cas9-induced precise gene editing in mammalian cells
Van Trung Chu et al.
NATURE BIOTECHNOLOGY (2015)
Off-target Effects in CRISPR/Cas9-mediated Genome Engineering
Xiao-Hui Zhang et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2015)
The consensus-based approach for gene/enzyme replacement therapies and crystallization strategies: the case of human alanine-glyoxylate aminotransferase
Noel Mesa-Torres et al.
BIOCHEMICAL JOURNAL (2014)
Vitamin B6 in Primary Hyperoxaluria I: First Prospective Trial after 40 Years of Practice
Heike Hoyer-Kuhn et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2014)
Mechanisms of protein-folding diseases at a glance
Julie S. Valastyan et al.
DISEASE MODELS & MECHANISMS (2014)
Gene disruption by cell-penetrating peptide-mediated delivery of Cas9 protein and guide RNA
Suresh Ramakrishna et al.
GENOME RESEARCH (2014)
Pharmacologic rescue of an enzyme-trafficking defect in primary hyperoxaluria 1
Non Miyata et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase
Elisa Oppici et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2013)
Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1
Sonia Fargue et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2013)
Hyperoxaluria and systemic oxalosis: an update on current therapy and future directions
Bodo B. Beck et al.
EXPERT OPINION ON INVESTIGATIONAL DRUGS (2013)
TAT-Mediated Delivery of Human Alanine:Glyoxylate Aminotransferase in a Cellular Model of Primary Hyperoxaluria Type I
Alessandro Roncador et al.
INTERNATIONAL JOURNAL OF PEPTIDE RESEARCH AND THERAPEUTICS (2013)
Calcium oxalate crystals induce renal inflammation by NLRP3-mediated IL-1 beta secretion
Shrikant R. Mulay et al.
JOURNAL OF CLINICAL INVESTIGATION (2013)
The Effects of Oxazyme on Oxalate Degradation: Results and Implications of In Vitro Experiments
Patrick W. Mufarrij et al.
JOURNAL OF ENDOUROLOGY (2013)
NALP3-mediated inflammation is a principal cause of progressive renal failure in oxalate nephropathy
Felix Knauf et al.
KIDNEY INTERNATIONAL (2013)
Primary Hyperoxaluria
Pierre Cochat et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
The Role of Protein Denaturation Energetics and Molecular Chaperones in the Aggregation and Mistargeting of Mutants Causing Primary Hyperoxaluria Type I
Noel Mesa-Torres et al.
PLOS ONE (2013)
A human strain of Oxalobacter (HC-1) promotes enteric oxalate secretion in the small intestine of mice and reduces urinary oxalate excretion
Marguerite Hatch et al.
UROLITHIASIS (2013)
End-joining, translocations and cancer
Samuel F. Bunting et al.
NATURE REVIEWS CANCER (2013)
Characteristics and Outcomes of Children with Primary Oxalosis Requiring Renal Replacement Therapy
Jerome Harambat et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2012)
A Comparison of Dequalinium Chloride Vaginal Tablets (Fluomizin (R)) and Clindamycin Vaginal Cream in the Treatment of Bacterial Vaginosis: A Single-Blind, Randomized Clinical Trial of Efficacy and Safety
Ernst Rainer Weissenbacher et al.
GYNECOLOGIC AND OBSTETRIC INVESTIGATION (2012)
Primary hyperoxaluria type III-a model for studying perturbations in glyoxylate metabolism
Ruth Belostotsky et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2012)
Liver cell transplantation in severe infantile oxalosis-a potential bridging procedure to orthotopic liver transplantation?
Bodo B. Beck et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2012)
Primary hyperoxaluria Type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort
S. M. van der Hoeven et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2012)
Primary Hyperoxaluria Type III Gene HOGA1 (Formerly DHDPSL) as a Possible Risk Factor for Idiopathic Calcium Oxalate Urolithiasis
Carla G. Monico et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2011)
Phenotypic Correction of a Mouse Model for Primary Hyperoxaluria With Adeno-associated Virus Gene Transfer
Eduardo Salido et al.
MOLECULAR THERAPY (2011)
Efficacy and safety of Oxalobacter formigenes to reduce urinary oxalate in primary hyperoxaluria
Bernd Hoppe et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2011)
Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III
Ruth Belostotsky et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Transplantation Outcomes in Primary Hyperoxaluria
E. J. Bergstralh et al.
AMERICAN JOURNAL OF TRANSPLANTATION (2010)
Structure of human glycolate oxidase in complex with the inhibitor 4-carboxy-5-[(4-chlorophenyl)sulfanyl]-1,2,3-thiadiazole
Jean-Marie Bourhis et al.
ACTA CRYSTALLOGRAPHICA SECTION F-STRUCTURAL BIOLOGY COMMUNICATIONS (2009)
Biological and Chemical Approaches to Diseases of Proteostasis Deficiency
Evan T. Powers et al.
ANNUAL REVIEW OF BIOCHEMISTRY (2009)
The primary hyperoxalurias
Bernd Hoppe et al.
KIDNEY INTERNATIONAL (2009)
In Vivo and in Vitro Examination of Stability of Primary Hyperoxaluria-associated Human Alanine: Glyoxylate Aminotransferase
Erin D. Hopper et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
[13C2] oxalate absorption in children with idiopathic calcium oxalate urolithiasis or primary hyperoxaluria
P. Sikora et al.
KIDNEY INTERNATIONAL (2008)
Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands.: Study of a spectrum of missense mutants
M. B. Coulter-Mackie et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Correction of hyperoxaluria by liver repopulation with hepatocytes in a mouse model of primary hyperoxaluria type-1
Jinlan Jiang et al.
TRANSPLANTATION (2008)
Human wild-type alanine:glyoxylate aminotransferase and its naturally occurring G82E variant:: functional properties and physiological implications
Barbara Cellini et al.
BIOCHEMICAL JOURNAL (2007)
Clearance and removal of oxalate in children on intensified dialysis for primary hyperoxaluria type 1
F. Illies et al.
KIDNEY INTERNATIONAL (2006)
Oxalobacter formigenes: a potential tool for the treatment of primary hyperoxaluria type 1
B. Hoppe et al.
KIDNEY INTERNATIONAL (2006)
Long-term analysis of combined liver and kidney transplantation at a single center
Richard Ruiz et al.
ARCHIVES OF SURGERY (2006)
Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase
Michael P. S. Booth et al.
JOURNAL OF MOLECULAR BIOLOGY (2006)
A preliminary account of the properties of recombinant human glyoxylate reductase (GRHPR), LDHA and LDHB with glyoxylate, and their potential roles in its metabolism
K Mdluli et al.
BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS (2005)
Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele
CG Monico et al.
KIDNEY INTERNATIONAL (2005)
Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria
CG Monico et al.
AMERICAN JOURNAL OF NEPHROLOGY (2005)
International registry for primary Hyperoxaluria
JC Lieske et al.
AMERICAN JOURNAL OF NEPHROLOGY (2005)
Clinical implications of mutation analysis in primary hyperoxaluria type 1
CS van Woerden et al.
KIDNEY INTERNATIONAL (2004)
Molecular Analysis of the Glyoxylate Reductase (GRHPR) Gene and Description of Mutations Underlying Primary Hyperoxaluria Type 2
David P. Cregeen et al.
HUMAN MUTATION (2003)
Correction of an enzyme trafficking defect in hereditary kidney stone disease in vitro
MJ Lumb et al.
BIOCHEMICAL JOURNAL (2003)
Primary hyperoxaluria type 1 in the Canary Islands:: A conformational disease due to I244T mutation in the P11 L-containing alanine:glyoxylate aminotransferase
A Santana et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome
CS van Woerden et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2003)
Phenotypic expression of primary hyperoxaluria: Comparative features of types I and II
DS Milliner et al.
KIDNEY INTERNATIONAL (2001)
分享论文
