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。Leveraging Northern European population history: novel low-frequency variants for polycystic ovary syndrome
Jaakko S. Tyrmi et al.
HUMAN REPRODUCTION (2022)
Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings
Paivi Vieira et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2022)
Genetic associations of protein-coding variants in human disease
Benjamin B. Sun et al.
NATURE (2022)
Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy
Julius Jarvilehto et al.
FRONTIERS IN NEUROLOGY (2022)
Effectiveness of clinical exome sequencing in adult patients with difficult-to-diagnose neurological disorders
Markus T. Sainio et al.
ACTA NEUROLOGICA SCANDINAVICA (2022)
The mitochondrial coenzyme Q junction and complex III: biochemistry and pathophysiology
Rishi Banerjee et al.
FEBS JOURNAL (2022)
Uniting biobank resources reveals novel genetic pathways modulating susceptibility for atopic dermatitis
Eeva Sliz et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2022)
Novel missense variants inPCK1gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intake
Kimihiko Oishi et al.
JOURNAL OF HUMAN GENETICS (2021)
Aspartylglucosaminuria: Clinical Presentation and Potential Therapies
Kimberly Goodspeed et al.
JOURNAL OF CHILD NEUROLOGY (2021)
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland
Irma Jarvela et al.
HUMAN GENETICS (2021)
Pre-clinical Gene Therapy with AAV9/AGA in Aspartylglucosaminuria Mice Provides Evidence for Clinical Translation
Xin Chen et al.
MOLECULAR THERAPY (2021)
Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses
Isabella R. Straub et al.
HUMAN MOLECULAR GENETICS (2021)
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease
Omar Hikmat et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2021)
Towards Splicing Therapy for Lysosomal Storage Disorders: Methylxanthines and Luteolin Ameliorate Splicing Defects in Aspartylglucosaminuria and Classic Late Infantile Neuronal Ceroid Lipofuscinosis
Antje Banning et al.
CELLS (2021)
Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage
Tomas Zarybnicky et al.
CELLS (2021)
Genetic variation in cervical preinvasive and invasive disease: a genome-wide association study
Sarah J Bowden et al.
LANCET ONCOLOGY (2021)
Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunction
Roberta Peruzzo et al.
NATURE COMMUNICATIONS (2021)
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis
Ryan S. Dhindsa et al.
COMMUNICATIONS BIOLOGY (2021)
Detailed profile of cognitive dysfunction in children with aspartylglucosaminuria
Elina Leena Harjunen et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2020)
Fasting reveals largely intact systemic lipid mobilization mechanisms in respiratory chain complex III deficient mice
Nikica Tomasic et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2020)
Defects in long-chain 3-hydroxy acyl-CoA dehydrogenase lead to hepatocellular carcinoma: A novel etiology of hepatocellular carcinoma
Tripti Khare et al.
INTERNATIONAL JOURNAL OF CANCER (2020)
Structures of AAA protein translocase Bcs1 suggest translocation mechanism of a folded protein
Wai Kwan Tang et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2020)
A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in mice
Janne Purhonen et al.
NATURE COMMUNICATIONS (2020)
Niacin Cures Systemic NAD+ Deficiency and Improves Muscle Performance in Adult-Onset Mitochondrial Myopathy
Eija Pirinen et al.
CELL METABOLISM (2020)
CUGC for lysinuric protein intolerance (LPI)
Diego Martinelli et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons
Sandra Harjuhaahto et al.
NEUROBIOLOGY OF DISEASE (2020)
Statistical Permutation Test Reveals Progressive and Region-Specific Iron Accumulation in the Thalami of Children with Aspartylglucosaminuria
Viljami Sairanen et al.
BRAIN SCIENCES (2020)
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
Daniel L. Polla et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2019)
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland
Mitja I. Kurki et al.
NATURE COMMUNICATIONS (2019)
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy
Cristina Dominguez-Gonzalez et al.
ANNALS OF NEUROLOGY (2019)
Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease
Susanna Bodoy et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships
Rachael A. Baker et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)
VarSome: the human genomic variant search engine
Christos Kopanos et al.
BIOINFORMATICS (2019)
Alternative oxidase-mediated respiration prevents lethal mitochondrial cardiomyopathy
Jayasimman Rajendran et al.
EMBO MOLECULAR MEDICINE (2019)
Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse
Emmanuelle C. Genin et al.
ACTA NEUROPATHOLOGICA (2019)
ALS/FTD mutant CHCHD10 mice reveal a tissue-specific toxic gain-of-function and mitochondrial stress response
Corey J. Anderson et al.
ACTA NEUROPATHOLOGICA (2019)
Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS
Isabella R. Straub et al.
HUMAN MOLECULAR GENETICS (2018)
In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions
S. R. Burstein et al.
HUMAN MOLECULAR GENETICS (2018)
Emptying the stores: lysosomal diseases and therapeutic strategies
Frances M. Platt
NATURE REVIEWS DRUG DISCOVERY (2018)
ClinVar: improving access to variant interpretations and supporting evidence
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2018)
Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland
Alicia R. Martin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Amlexanox provides a potential therapy for nonsense mutations in the lysosomal storage disorder Aspartylglucosaminuria
Antje Banning et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2018)
NAD+ repletion produces no therapeutic effect in mice with respiratory chain complex III deficiency and chronic energy deprivation
Janne Purhonen et al.
FASEB JOURNAL (2018)
Retrospective natural history of thymidine kinase 2 deficiency
Caterina Garone et al.
JOURNAL OF MEDICAL GENETICS (2018)
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability
Regie Lyn P. Santos-Cortez et al.
HUMAN GENETICS (2018)
Lysosomal storage diseases
Frances M. Platt et al.
NATURE REVIEWS DISEASE PRIMERS (2018)
CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients
Sini Penttila et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2017)
Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction
Paivi Vieira et al.
MOLECULAR GENETICS AND METABOLISM (2017)
Ketogenic diet attenuates hepatopathy in mouse model of respiratory chain complex III deficiency caused by a Bcs1l mutation
Janne Purhonen et al.
SCIENTIFIC REPORTS (2017)
Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly
Tamar Harel et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Tuuli Immonen et al.
ACTA PAEDIATRICA (2016)
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant
Nataliya Di Donato et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism
Joni Nikkanen et al.
CELL METABOLISM (2016)
Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathypatients
Sofia Ahola et al.
EMBO MOLECULAR MEDICINE (2016)
Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland
Luca Trotta et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis
Saikat Santra et al.
MOLECULAR GENETICS AND METABOLISM (2016)
Aspartylglycosaminuria: a review
Maria Arvio et al.
ORPHANET JOURNAL OF RARE DISEASES (2016)
Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria
Antje Banning et al.
SCIENTIFIC REPORTS (2016)
Effect of High-Carbohydrate Diet on Plasma Metabolome in Mice with Mitochondrial Respiratory Chain Complex III Deficiency
Jayasimman Rajendran et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2016)
Genetic Basis of Brain Malformations
Elena Parrini et al.
MOLECULAR SYNDROMOLOGY (2016)
Late Onset Spinal Motor Neuronopathy Is Caused by Mutation in CHCHD10
Sini Penttila et al.
ANNALS OF NEUROLOGY (2015)
Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy
Senda Ajroud-Driss et al.
NEUROGENETICS (2015)
Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Padmini P. Polinati et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2015)
Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease
Kathrin Mueller et al.
BRAIN (2014)
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
Sylvie Bannwarth et al.
BRAIN (2014)
Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency
Caterina Garone et al.
EMBO MOLECULAR MEDICINE (2014)
Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3
Nahid A. Khan et al.
EMBO MOLECULAR MEDICINE (2014)
Aspartylglucosaminuria: Unusual Neonatal Presentation in Qatari Twins With a Novel Aspartylglucosaminidase Gene Mutation and 3 New Cases in a Turkish Family
Thomas Opladen et al.
JOURNAL OF CHILD NEUROLOGY (2014)
Complex I Function and Supercomplex Formation Are Preserved in Liver Mitochondria Despite Progressive Complex III Deficiency
Mina Davoudi et al.
PLOS ONE (2014)
Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population
Elaine T. Lim et al.
PLOS GENETICS (2014)
The Finnish Disease Heritage Database (FinDis) Update-A Database for the Genes Mutated in the Finnish Disease Heritage Brought to the Next-Generation Sequencing Era
Anne Polvi et al.
HUMAN MUTATION (2013)
Interactions of y+LAT1 and 4F2hc in the y+L amino acid transporter complex: consequences of lysinuric protein intolerance-causing mutations
Minna Toivonen et al.
GENERAL PHYSIOLOGY AND BIOPHYSICS (2013)
Metabolite Profiles Reveal Energy Failure and Impaired Beta-Oxidation in Liver of Mice with Complex III Deficiency Due to a BCS1L Mutation
Heike Kotarsky et al.
PLOS ONE (2012)
Lysinuric Protein Intolerance: Reviewing Concepts on a Multisystem Disease
Gianfranco Sebastio et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2011)
The GRACILE Mutation Introduced into Bcs1l Causes Postnatal Complex III Deficiency: A Viable Mouse Model for Mitochondrial Hepatopathy
Per Leveen et al.
HEPATOLOGY (2011)
Late-onset lower motor neuronopathy A new autosomal dominant disorder
M. Jokela et al.
NEUROLOGY (2011)
Mitochondrial hepatopathies in the newborn period
Vineta Fellman et al.
SEMINARS IN FETAL & NEONATAL MEDICINE (2011)
MYOCLONUS EPILEPSY (UNVERRICHT-LUNDBORG) IN FINLAND
A. Harenko et al.
ACTA NEUROLOGICA SCANDINAVICA (2010)
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation
Arja Laitinen et al.
CLINICAL GENETICS (2010)
Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity
Reuo Norio et al.
CLINICAL GENETICS (2010)
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)
R. Salonen et al.
CLINICAL GENETICS (2010)
The hydrolethalus syndrome: delineation of a “new”, lethal malformation syndrome based on 28 patients
Riitta Salonen et al.
CLINICAL GENETICS (2010)
Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice
Ulla Dunder et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation
Heike Kotarsky et al.
MITOCHONDRION (2010)
Combined hyperlipidemia in patients with lysinuric protein intolerance
Laura M. Tanner et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
Recessive twinkle mutations cause severe epileptic encephalopathy
Tuula Lonnqvist et al.
BRAIN (2009)
Hepatic energy state is regulated by glucagon receptor signaling in mice
Eric D. Berglund et al.
JOURNAL OF CLINICAL INVESTIGATION (2009)
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome
Alexandra Gotz et al.
BRAIN (2008)
Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus
Johanna Uusimaa et al.
EPILEPSIA (2008)
Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient mice
Xiaoshan Zhou et al.
HUMAN MOLECULAR GENETICS (2008)
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance
Hasan O. Akman et al.
HUMAN MOLECULAR GENETICS (2008)
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion
Anna H. Hakonen et al.
HUMAN MOLECULAR GENETICS (2008)
Nutrient intake in lysinuric protein intolerance
L. M. Tanner et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2007)
Long-term oral lysine supplementation in lysinuric protein intolerance
Laura M. Tanner et al.
METABOLISM-CLINICAL AND EXPERIMENTAL (2007)
The spectrum of clinical disease caused by the A467T and W748SPOLG mutations:: a study of 26 cases
Charalampos Tzoulis et al.
BRAIN (2006)
Hazards associated with pregnancies and deliveries in lysinuric protein intolerance
L Tanner et al.
METABOLISM-CLINICAL AND EXPERIMENTAL (2006)
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky
K Nikali et al.
HUMAN MOLECULAR GENETICS (2005)
Mitochondrial DNA polymerase W748S mutation:: A common cause of autosomal recessive ataxia with ancient European origin
AH Hakonen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Massive accumulation of Man(2)GlcNAc(2)-Asn in nonneuronal tissues of glycosylasparaginase-deficient mice and its removal by enzyme replacement therapy
E Kelo et al.
GLYCOBIOLOGY (2005)
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
RK Naviaux et al.
ANNALS OF NEUROLOGY (2004)
Finnish Disease Heritage I: characteristics, causes, background
R Norio
HUMAN GENETICS (2003)
Finnish Disease Heritage II: population prehistory and genetic roots of Finns
R Norio
HUMAN GENETICS (2003)
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L
I Visapää et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Dissecting a population genome for targeted screening of disease mutations
T Pastinen et al.
HUMAN MOLECULAR GENETICS (2001)
Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family
M Rantamäki et al.
NEUROLOGY (2001)
Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations
J Saarela et al.
HUMAN MOLECULAR GENETICS (2001)
Heterozygosity for the common LCHAD mutation (1528G>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low
MEJ Den Boer et al.
PEDIATRIC RESEARCH (2000)
Treatment of hemophagocytic lymphohistiocytosis with cyclosporin A and steroids in a boy with lysinuric protein intolerance
B Bader-Meunier et al.
JOURNAL OF PEDIATRICS (2000)
Phosphoenolpyruvate carboxykinase is necessary for the integration of hepatic energy metabolism
P She et al.
MOLECULAR AND CELLULAR BIOLOGY (2000)
分享论文
