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。Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy
Roberto De Giorgio et al.
ANNALS OF NEUROLOGY (2016)
Human mitochondrial DNA replication machinery and disease
Matthew J. Young et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2016)
Optimizing autologous cell grafts to improve stem cell gene therapy
Nikoletta Psatha et al.
EXPERIMENTAL HEMATOLOGY (2016)
Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy
Javier Torres-Torronteras et al.
HUMAN GENE THERAPY (2016)
Preclinical Testing of the Safety and Tolerability of Lentiviral Vector-Mediated Above-Normal Alpha-L-Iduronidase Expression in Murine and Human Hematopoietic Cells Using Toxicology and Biodistribution Good Laboratory Practice Studies
Ilaria Visigalli et al.
HUMAN GENE THERAPY (2016)
The Role of Conditioning in Hematopoietic Stem-Cell Gene Therapy
Maria Ester Bernardo et al.
HUMAN GENE THERAPY (2016)
Safer conditioning for blood stem cell transplants
Alessandro Aiuti et al.
NATURE BIOTECHNOLOGY (2016)
Non-genotoxic conditioning for hematopoietic stem cell transplantation using a hematopoietic-cell-specific internalizing immunotoxin
Rahul Palchaudhuri et al.
NATURE BIOTECHNOLOGY (2016)
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy
Joerg P. Halter et al.
BRAIN (2015)
OP45 – 3024: Efficient lentiviral vector-mediated hematopoietic stem cell gene therapy in MNGIE mice
R. Yadak et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2015)
Eye movement changes in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
Claudia Vinciguerra et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2015)
Spontaneous abdominal esophageal perforation in a patient with mitochondrial neurogastrointestinal encephalomyopathy
I. H. Kalkan et al.
ACTA CLINICA BELGICA (2015)
Mitochondrial neurogastrointestinal encephalomyopathy treated with peritoneal dialysis and bone marrow transplantation
Claudia Ariaudo et al.
JOURNAL OF NEPHROLOGY (2015)
Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy
Beatriz Garcia-Diaz et al.
BRAIN (2014)
Preclinical Evaluation of Efficacy and Safety of an Improved Lentiviral Vector for the Treatment of β-Thalassemia and Sickle Cell Disease
Olivier Negre et al.
CURRENT GENE THERAPY (2014)
Unexplained gastrointestinal symptoms: Think mitochondrial disease
Thomas P. Chapman et al.
DIGESTIVE AND LIVER DISEASE (2014)
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
Peter D. Stenson et al.
HUMAN GENETICS (2014)
Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome
Yolanda Camara et al.
HUMAN MOLECULAR GENETICS (2014)
Gene Therapy Using a Liver-targeted AAV Vector Restores Nucleoside and Nucleotide Homeostasis in a Murine Model of MNGIE
Javier Torres-Torronteras et al.
MOLECULAR THERAPY (2014)
Liver as a Source for Thymidine Phosphorylase Replacement in Mitochondrial Neurogastrointestinal Encephalomyopathy
Elisa Boschetti et al.
PLOS ONE (2014)
Gene Therapy for Wiskott-Aldrich Syndrome-Long-Term Efficacy and Genotoxicity
Christian Joerg Braun et al.
SCIENCE TRANSLATIONAL MEDICINE (2014)
Immune responses to AAV vectors: overcoming barriers to successful gene therapy
Federico Mingozzi et al.
BLOOD (2013)
β-globin gene transfer to human bone marrow for sickle cell disease
Zulema Romero et al.
JOURNAL OF CLINICAL INVESTIGATION (2013)
Adult-onset leukodystrophies from respiratory chain disorders: do they exist?
Ettore Salsano et al.
JOURNAL OF NEUROLOGY (2013)
The human concentrative and equilibrative nucleoside transporter families, SLC28 and SLC29
James D. Young et al.
MOLECULAR ASPECTS OF MEDICINE (2013)
New treatments for mitochondrial disease-no time to drop our standards
Gerald Pfeffer et al.
NATURE REVIEWS NEUROLOGY (2013)
CLINICAL AND BIOCHEMICAL IMPROVEMENTS IN A PATIENT WITH MNGIE FOLLOWING ENZYME REPLACEMENT
Bridget E. Bax et al.
NEUROLOGY (2013)
Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options
Ayman W. El-Hattab et al.
NEUROTHERAPEUTICS (2013)
Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome
Alessandro Aiuti et al.
SCIENCE (2013)
Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy
Alessandra Biffi et al.
SCIENCE (2013)
Preclinical Toxicity Evaluation of Erythrocyte-Encapsulated Thymidine Phosphorylase in BALB/c Mice and Beagle Dogs: An Enzyme-Replacement Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy
Michelle Levene et al.
TOXICOLOGICAL SCIENCES (2013)
The Maintenance of Mitochondrial DNA Integrity-Critical Analysis and Update
Mikhail Alexeyev et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2013)
The Role of Brain MRI in Mitochondrial Neurogastrointestinal Encephalomyopathy
Mauro Scarpelli et al.
NEURORADIOLOGY JOURNAL (2013)
Mitochondrial neurogastrointestinal encephalomyopathy mimicking chronic inflammatory demyelinating polyradiculoneuropathy
Camila Pupe et al.
ARQUIVOS DE NEURO-PSIQUIATRIA (2012)
Integration of retroviral vectors
Richard Gabriel et al.
CURRENT OPINION IN IMMUNOLOGY (2012)
Peripheral neuropathy associated with mitochondrial disease in children
Manoj P. Menezes et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2012)
Brain conditioning is instrumental for successful microglia reconstitution following hematopoietic stem cell transplantation
Alessia Capotondo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
Successful cochlear implantation in a patient with MNGIE syndrome
Jia-Nan Li et al.
ACTA OTO-LARYNGOLOGICA (2011)
Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach
J. Halter et al.
BONE MARROW TRANSPLANTATION (2011)
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy
Caterina Garone et al.
BRAIN (2011)
Hematopoietic stem cell expansion and gene therapy
Korashon Lynn Watts et al.
CYTOTHERAPY (2011)
Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE
J. Torres-Torronteras et al.
GENE THERAPY (2011)
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
David M. S. McHugh et al.
GENETICS IN MEDICINE (2011)
Limited dCTP Availability Accounts for Mitochondrial DNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
Emiliano Gonzalez-Vioque et al.
PLOS GENETICS (2011)
Antibody targeting KIT as pretransplantation conditioning in immunocompetent mice
Xingkui Xue et al.
BLOOD (2010)
Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease
Stefan Stein et al.
NATURE MEDICINE (2010)
A second MNGIE patient without typical mitochondrial skeletal muscle involvement
Elena Cardaioli et al.
NEUROLOGICAL SCIENCES (2010)
Efficacy of Gene Therapy for X-Linked Severe Combined Immunodeficiency
Salima Hacein-Bey-Abina et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Stem-Cell Gene Therapy for the Wiskott-Aldrich Syndrome
Kaan Boztug et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling
Steffi Goffart et al.
HUMAN MOLECULAR GENETICS (2009)
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice
Luis C. Lopez et al.
HUMAN MOLECULAR GENETICS (2009)
Assessment of stability, toxicity and immunogenicity of new polymeric nanoreactors for use in enzyme replacement therapy of MNGIE
Caroline De Vocht et al.
JOURNAL OF CONTROLLED RELEASE (2009)
Absence of the interstitial cell of Cajal network in mitochondrial neurogastrointestinal encephalomyopathy
V. Zimmer et al.
NEUROGASTROENTEROLOGY AND MOTILITY (2009)
Invited Article: An MRI-based approach to the diagnosis of white matter disorders
Raphael Schiffmann et al.
NEUROLOGY (2009)
Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity
Roberto Massa et al.
NEUROMUSCULAR DISORDERS (2009)
Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy
Nathalie Cartier et al.
SCIENCE (2009)
Ten years of gene therapy for primary immune deficiencies
A. Aiuti et al.
Hematology-American Society of Hematology Education Program (2009)
Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion
Carla Giordano et al.
AMERICAN JOURNAL OF PATHOLOGY (2008)
Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients
Steven J. Howe et al.
JOURNAL OF CLINICAL INVESTIGATION (2008)
Carrier erythrocyte entrapped thymidine phosphorylas etherapy for MNGIE
N. F. Moran et al.
NEUROLOGY (2008)
Human equilibrative nucleoside transporter (ENT) family of nucleoside and nucleobase transporter proteins
J. D. Young et al.
XENOBIOTICA (2008)
Hot spots of retroviral integration in human CD34+ hematopoietic cells
Claudia Cattoglio et al.
BLOOD (2007)
Vector integration is nonrandom and clustered and influences the fate of lymphopoiesis in SCID-X1 gene therapy
Annette Deichmann et al.
JOURNAL OF CLINICAL INVESTIGATION (2007)
Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
Maria Lucia Valentino et al.
FEBS LETTERS (2007)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE):: Biochemical features and therapeutic approaches
M. C. Lara et al.
BIOSCIENCE REPORTS (2007)
Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation
F. J. Carod-Artal et al.
EUROPEAN JOURNAL OF NEUROLOGY (2007)
Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis
Haluk Yavuz et al.
ARCHIVES OF NEUROLOGY (2007)
Mitochondrial neurogastrointestinal encephalomyopathy in three siblings
W. M. M. Schuepbach et al.
JOURNAL OF NEUROLOGY (2007)
Abdominal pain related to mitochondrial neurogastrointestinal encephalomyopathy syndrome may benefit from splanchnic nerve blockade
Nalan Celebi et al.
PEDIATRIC ANESTHESIA (2006)
Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy
Giovanna Pontarin et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Pre- and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS
G. la Marca et al.
JOURNAL OF MASS SPECTROMETRY (2006)
Mobilization as a preparative regimen for hematopoietic stem cell transplantation
J Chen et al.
BLOOD (2006)
Self-complementary adeno-associated virus vectors containing a novel liver-specific human factor IX expression cassette enable highly efficient transduction of murine and nonhuman primate liver
AC Nathwani et al.
BLOOD (2006)
Successful transduction of liver in hemophilia by AAV-factor IX and limitations imposed by the host immune response
CS Manno et al.
NATURE MEDICINE (2006)
Mitochondrial Neurogastrointestinal encephalomyopathy: Evidence of mitochondrial DNA depletion in the small intestine
C Giordano et al.
GASTROENTEROLOGY (2006)
Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE
A Blazquez et al.
NEUROMUSCULAR DISORDERS (2005)
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity
R Martí et al.
ANNALS OF NEUROLOGY (2005)
Digestive smooth muscle mitochondrial myopathy in patients with mitochondrial-neuro-gastro-intestinal encephalomyopathy (MNGIE) - Report of 3 cases and review of the literature
H Blondon et al.
GASTROENTEROLOGIE CLINIQUE ET BIOLOGIQUE (2005)
A novel thymidine phosphorylase mutation in a Spanish MNGIE patient
J Gamez et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2005)
Unrestricted hepatocyte transduction with adeno-associated virus serotype 8 vectors in mice
H Nakai et al.
JOURNAL OF VIROLOGY (2005)
Recent advances in newborn screening for neurometabolic disorders
MD Carlson
CURRENT OPINION IN NEUROLOGY (2004)
MNGIE neuropathy: Five cases mimicking chronic inflammatory demyelinating polyneuropathy
RS Bedlack et al.
MUSCLE & NERVE (2004)
MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation
K Szigeti et al.
JOURNAL OF MEDICAL GENETICS (2004)
Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector
HB Gaspar et al.
LANCET (2004)
Mitochondrial diseases
S DiMauro
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2004)
Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays
R Marti et al.
CLINICAL CHEMISTRY (2004)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): A disease of two genomes
M Hirano et al.
NEUROLOGIST (2004)
Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report
P Barboni et al.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2004)
Deoxyribonucleotide pool imbalance stimulates deletions in HeLa cell mitochondrial DNA
SW Song et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1
S Hacein-Bey-Abina et al.
SCIENCE (2003)
Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients
YC Kocaefe et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2003)
Cochlear implantation in a patient with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome
S Yasumura et al.
ACTA OTO-LARYNGOLOGICA (2003)
Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE)
LD Fairbanks et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2002)
Multiple mtDNA deletions with features of MNGIE
J Vissing et al.
NEUROLOGY (2002)
Diagnosis and management of MNGIE syndrome in children: Case report and review of the literature
JE Teitelbaum et al.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2002)
Targeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in mice
M Haraguchi et al.
MOLECULAR AND CELLULAR BIOLOGY (2002)
Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning
A Aiuti et al.
SCIENCE (2002)
Altered thymidine metabolism due to defects of thymidine phosphorylase
A Spinazzola et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Defects of intergenomic communication:: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA
M Hirano et al.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2001)
Transduction of human CD34+CD38- bone marrow and cord blood-derived SCID-repopulating cells with third-generation lentiviral vectors
G Guenechea et al.
MOLECULAR THERAPY (2000)
分享论文
