Implication of folate deficiency in CYP2U1 loss of function

This study characterizes a Cyp2u1−/− mouse model and connects neurodevelopmental deficits to mitochondrial dysfunctions and folate, which could be prevented by folate supplementation in a mouse model. It also validates biochemical and imaging biomarkers in SPG56 patients, which are critical to allow drug development.

[1]  A. Durr,et al.  Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56 , 2020, Journal of internal medicine.

[2]  P. Bross,et al.  Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism , 2020, International journal of molecular sciences.

[3]  S. Efthymiou,et al.  Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia , 2020, Journal of the Neurological Sciences.

[4]  J. Simpson,et al.  NeurodegenERation: The Central Role for ER Contacts in Neuronal Function and Axonopathy, Lessons From Hereditary Spastic Paraplegias and Related Diseases , 2019, Front. Neurosci..

[5]  Sijie He,et al.  Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families , 2019, Journal of Clinical Neuroscience.

[6]  D. Mastronarde,et al.  Software tools for automated transmission electron microscopy , 2019, Nature Methods.

[7]  György Hajnóczky,et al.  Coming together to define membrane contact sites , 2019, Nature Communications.

[8]  J. Christodoulou,et al.  Disorders of riboflavin metabolism , 2019, Journal of inherited metabolic disease.

[9]  G. Stevanin,et al.  Update on the Genetics of Spastic Paraplegias , 2019, Current Neurology and Neuroscience Reports.

[10]  F. Sedel,et al.  Cerebral folate deficiency in adults: A heterogeneous potentially treatable condition , 2019, Journal of the Neurological Sciences.

[11]  L. Cantley,et al.  Toward a better understanding of folate metabolism in health and disease , 2018, The Journal of experimental medicine.

[12]  A. Durr,et al.  Hereditary ataxias and paraparesias: clinical and genetic update , 2018, Current opinion in neurology.

[13]  M. Zeviani,et al.  Human diseases associated with defects in assembly of OXPHOS complexes , 2018, Essays in biochemistry.

[14]  Minhye Shin,et al.  Deletion of the neural tube defect–associated gene Mthfd1l disrupts one-carbon and central energy metabolism in mouse embryos , 2018, The Journal of Biological Chemistry.

[15]  J. Sahel,et al.  Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments , 2018, Scientific Reports.

[16]  A. Durr,et al.  CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56 , 2018, Human mutation.

[17]  J. A. Letts,et al.  Clarifying the supercomplex: the higher-order organization of the mitochondrial electron transport chain , 2017, Nature Structural &Molecular Biology.

[18]  H. Arai,et al.  An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination , 2017, Journal of Human Genetics.

[19]  A. Brice,et al.  Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration , 2017, Neurobiology of Disease.

[20]  David N. Mastronarde,et al.  Automated tilt series alignment and tomographic reconstruction in IMOD. , 2017, Journal of structural biology.

[21]  B. Garavaglia,et al.  Long-term follow-up in spastic paraplegia due to SPG56/CYP2U1: age-dependency rather than genetic variability? , 2017, Journal of Neurology.

[22]  M. Cowley,et al.  Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing , 2016, neurogenetics.

[23]  R. Schüle,et al.  CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia. , 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[24]  E. Trevisson,et al.  Coenzyme Q biosynthesis in health and disease. , 2016, Biochimica et biophysica acta.

[25]  J. Nicolai,et al.  Teaching NeuroImages: White matter hypomyelination and progressive calcifications in cerebral folate deficiency , 2016, Neurology.

[26]  J. M. Sequeira,et al.  The metabolic basis for developmental disorders due to defective folate transport. , 2016, Biochimie.

[27]  B. Colsch,et al.  Annotation of the human cerebrospinal fluid lipidome using high resolution mass spectrometry and a dedicated data processing workflow , 2016, Metabolomics.

[28]  F. Pierelli,et al.  Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family , 2016, Journal of Neurology.

[29]  N. Karp,et al.  A gene expression resource generated by genome-wide lacZ profiling in the mouse , 2015, Disease Models & Mechanisms.

[30]  M. Loriot,et al.  Expression in yeast, new substrates, and construction of a first 3D model of human orphan cytochrome P450 2U1: Interpretation of substrate hydroxylation regioselectivity from docking studies. , 2015, Biochimica et biophysica acta.

[31]  Y. Crow,et al.  Aicardi–Goutières syndrome and the type I interferonopathies , 2015, Nature Reviews Immunology.

[32]  A. Tessa,et al.  Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56. , 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[33]  B. Colsch,et al.  Lipidomic analysis of cerebrospinal fluid by mass spectrometry–based methods , 2015, Journal of Inherited Metabolic Disease.

[34]  R. Means,et al.  Mitochondrial DNA Stress Primes the Antiviral Innate Immune Response , 2014, Nature.

[35]  Daniel G McHail,et al.  Developmental studies of the hippocampus and hippocampal-dependent behaviors: Insights from interdisciplinary studies and tips for new investigators , 2014, Neuroscience & Biobehavioral Reviews.

[36]  N. Bresolin,et al.  Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis , 2014, Journal of Neurology.

[37]  J. Fink,et al.  Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms , 2013, Acta Neuropathologica.

[38]  S. Vokes,et al.  Deletion of Mthfd1l causes embryonic lethality and neural tube and craniofacial defects in mice , 2012, Proceedings of the National Academy of Sciences.

[39]  G. Gyapay,et al.  Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. , 2012, American journal of human genetics.

[40]  M. Pennesi,et al.  Animal models of age related macular degeneration. , 2012, Molecular aspects of medicine.

[41]  K. Lloyd.  A knockout mouse resource for the biomedical research community , 2011, Annals of the New York Academy of Sciences.

[42]  M. Lazarou,et al.  Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients. , 2006, Journal of molecular biology.

[43]  David N Mastronarde,et al.  Automated electron microscope tomography using robust prediction of specimen movements. , 2005, Journal of structural biology.

[44]  A. Irintchev,et al.  Impacts of lesion severity and tyrosine kinase receptor B deficiency on functional outcome of femoral nerve injury assessed by a novel single‐frame motion analysis in mice , 2005, The European journal of neuroscience.

[45]  AKIFUMI ODA,et al.  New AMBER force field parameters of heme iron for cytochrome P450s determined by quantum chemical calculations of simplified models , 2005, J. Comput. Chem..

[46]  M. Taimi,et al.  CYP2U1, a Novel Human Thymus- and Brain-specific Cytochrome P450, Catalyzes ω- and (ω-1)-Hydroxylation of Fatty Acids* , 2004, Journal of Biological Chemistry.

[47]  G. P. Kuznetsova,et al.  Fluorescent assay for riboflavin binding to cytochrome P450 2B4. , 2004, Journal of inorganic biochemistry.

[48]  I. Krägeloh-Mann,et al.  Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome , 2003, Neurology.

[49]  Leslie Whiston,et al.  Developmental Studies , 1985, Developmental medicine and child neurology.

[50]  J. Folch,et al.  A simple method for the isolation and purification of total lipides from animal tissues. , 1957, The Journal of biological chemistry.

[51]  M. Holčapek,et al.  Lipidomic Analysis. , 2018, Analytical chemistry.

[52]  J. Boucher,et al.  Spectral and 3D model studies of the interaction of orphan human cytochrome P450 2U1 with substrates and ligands. , 2017, Biochimica et biophysica acta. General subjects.

[53]  J R Kremer,et al.  Computer visualization of three-dimensional image data using IMOD. , 1996, Journal of structural biology.