标题
Genetic defects in dolichol metabolism
作者
关键词
Hairy Root, Farnesyl Diphosphate, HepaRG Cell, Glycosylation Pathway, Dolichyl Phosphate
出版物
JOURNAL OF INHERITED METABOLIC DISEASE
Volume 38, Issue 1, Pages 157-169
出版商
Springer Nature
发表日期
2014-09-30
DOI
10.1007/s10545-014-9760-1
参考文献
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注意：仅列出部分参考文献，下载原文获取全部文献信息。- Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation
- (2014) Eon Joo Park et al. Cell Metabolism
- cis-Prenyltransferase AtCPT6 produces a family of very short-chain polyisoprenoids in planta
- (2013) Liliana Surmacz et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
- N-linked protein glycosylation in the ER
- (2013) Markus Aebi BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
- Ethanol-Induced Impairment in the Biosynthesis of N-Linked Glycosylation
- (2013) Michael Welti et al. JOURNAL OF CELLULAR BIOCHEMISTRY
- Aberrant dolichol chain lengths as biomarkers for retinitis pigmentosa caused by impaired dolichol biosynthesis
- (2013) Rong Wen et al. JOURNAL OF LIPID RESEARCH
- Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation
- (2013) Anders Helander et al. MOLECULAR GENETICS AND METABOLISM
- Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation
- (2013) Michelle T. Lieu et al. MOLECULAR GENETICS AND METABOLISM
- Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy
- (2013) Amy C. Yang et al. MOLECULAR GENETICS AND METABOLISM
- 5α-reductase type 3 enzyme in benign and malignant prostate
- (2013) Mark A. Titus et al. PROSTATE
- N-Linked Protein Glycosylation in the Endoplasmic Reticulum
- (2013) J. Breitling et al. Cold Spring Harbor Perspectives in Biology
- Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation
- (2012) Lynne A. Wolfe et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy
- (2012) Rita Barone et al. ANNALS OF NEUROLOGY
- N-glycans in cell survival and death: Cross-talk between glycosyltransferases
- (2012) Dipak K. Banerjee BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
- Sugar availability modulates polyisoprenoid and phytosterol profiles in Arabidopsis thaliana hairy root culture
- (2012) Adam Jozwiak et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
- Distinct Patterns of Dysregulated Expression of Enzymes Involved in Androgen Synthesis and Metabolism in Metastatic Prostate Cancer Tumors
- (2012) N. Mitsiades et al. CANCER RESEARCH
- 5α-Reductases in Human Physiology: An Unfolding Story
- (2012) Abdulmaged Traish Endocrine Practice
- Identification and characterization of acis,trans-mixed heptaprenyl diphosphate synthase fromArabidopsis thaliana
- (2012) Kota Kera et al. FEBS Journal
- Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency
- (2012) M. Pane et al. NEUROMUSCULAR DISORDERS
- The tomatocis-prenyltransferase gene family
- (2012) Tariq A. Akhtar et al. PLANT JOURNAL
- A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews
- (2011) Lina Zelinger et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa
- (2011) Stephan Züchner et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Polyisoprenoids – Secondary metabolites or physiologically important superlipids?
- (2011) Liliana Surmacz et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Nogo-B receptor is necessary for cellular dolichol biosynthesis and proteinN-glycosylation
- (2011) Kenneth D Harrison et al. EMBO JOURNAL
- From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases
- (2011) Vincent Cantagrel et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Mannose-6-phosphate regulates destruction of lipid-linked oligosaccharides
- (2011) Ningguo Gao et al. MOLECULAR BIOLOGY OF THE CELL
- Expression, Localization and Function of a cis-Prenyltransferase in the Tapetum and Microspores of Lily Anthers
- (2011) Ming-Che Liu et al. PLANT AND CELL PHYSIOLOGY
- DOLICHOL PHOSPHATE MANNOSE SYNTHASE1 Mediates the Biogenesis of Isoprenyl-Linked Glycans and Influences Development, Stress Response, and Ammonium Hypersensitivity inArabidopsis
- (2011) Nurul Jadid et al. PLANT CELL
- Androgen Regulation of 5α-Reductase Isoenzymes in Prostate Cancer: Implications for Prostate Cancer Prevention
- (2011) Jin Li et al. PLoS One
- Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation
- (2011) Dirk J. Lefeber et al. PLoS Genetics
- A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism
- (2010) Eva Morava et al. BRAIN
- SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
- (2010) Vincent Cantagrel et al. CELL
- Long-Chain os-Isoprenyltransferase Activity Is Induced Early in the Developmental Program for Protein N-Glycosylation in Embryonic Rat Brain Cells
- (2010) Dean C. Crick et al. JOURNAL OF NEUROCHEMISTRY
- 5α-reductase type 3 expression in human benign and malignant tissues: A comparative analysis during prostate cancer progression
- (2010) Alejandro Godoy et al. PROSTATE
- Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies
- (2009) Dirk J. Lefeber et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Hypoglycosylation due to dolichol metabolism defects
- (2009) Jonas Denecke et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Nogo-B Receptor Stabilizes Niemann-Pick Type C2 Protein and Regulates Intracellular Cholesterol Trafficking
- (2009) Kenneth D. Harrison et al. Cell Metabolism
- TheYTA7gene is involved in the regulation of the isoprenoid pathway in the yeastSaccharomyces cerevisiae
- (2009) Klaudia Kuranda et al. FEMS YEAST RESEARCH
- Protein O-mannosylation: Conserved from bacteria to humans
- (2009) M. Lommel et al. GLYCOBIOLOGY
- Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides
- (2009) Micha A. Haeuptle et al. HUMAN MUTATION
- Discovering novel brain lipids by liquid chromatography/tandem mass spectrometry
- (2009) Ziqiang Guan JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES
- Human RFT1 Deficiency Leads to a Disorder of N-Linked Glycosylation
- (2008) Micha A. Haeuptle et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Dolichol-phosphate mannose synthase: Structure, function and regulation
- (2008) Yusuke Maeda et al. BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
- Unique Structural Motif Supports Mannosylphospho Dolichol Synthase: An Important Angiogenesis Regulator
- (2008) Krishna Baksi et al. CURRENT DRUG TARGETS
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