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1. Full Text Functions of plasmalogen lipids in health and disease
by Braverman, Nancy E and Moser, Ann B
BBA - Molecular Basis of Disease, ISSN 0925-4439, 09/2012, Volume 1822, Issue 9, pp. 1442 - 1452
Plasmalogens are a unique class of membrane glycerophospholipids containing a fatty alcohol with a vinyl-ether bond at the -1 position, and enriched in... 
Lipid signaling | Plasmalogen replacement therapy | Alzheimer disease | Respiratory disease | Rhizomelic Chondrodysplasia Punctata | Plasmalogen | OXIDATIVE STRESS | ALKYL-DIHYDROXYACETONEPHOSPHATE-SYNTHASE | ALZHEIMERS-DISEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | PEROXISOMAL DISORDERS | ARACHIDONIC-ACID | TANDEM MASS-SPECTROMETRY | BIOPHYSICS | ZELLWEGER-SYNDROME | FATTY-ACID | CHIMYL ALCOHOL | Bonds | Amyloid beta-protein | Glycerol | Lipids | Phospholipids | Arachidonic acid | Fatty acids | Glycerin | Unsaturated fatty acids | Respiratory tract diseases | Physicians (General practice) | Chemical properties | Phospholipases | Alzheimer's disease | Omega-3 fatty acids
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2. Full Text Erratum: Peroxisome-Mediated Metabolism Is Required for Immune Response to Microbial Infection (Immunity (2017) 47(1) (93–106.e7)(S1074761317302765)(10.1016/j.immuni.2017.06.016))
by Di Cara, Francesca and Sheshachalam, Avinash and Braverman, Nancy E and Rachubinski, Richard A and Simmonds, Andrew J
Immunity, ISSN 1074-7613, 04/2018, Volume 48, Issue 4, pp. 832 - 833
(Immunity 47, 93-106, July 18, 2017). Main Text: In the original Figure 2A, the single black and white image for Pex5-i denoting nuclei (DNA) was incorrectly... 
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3. Full Text Phenylalanine hydroxylase deficiency: Diagnosis and management guideline
by Vockley, Jerry and Andersson, Hans C and Antshel, Kevin M and Braverman, Nancy E and Burton, Barbara K and Frazier, Dianne M and Mitchell, John and Smith, Wendy E and Thompson, Barry H and Berry, Susan A and Amer Coll Med Genetics and Genomics Therapeutic Comm and American College of Medical Genetics and Genomics Therapeutics Committee and the American College of Medical Genetics and Genomics Therapeutic Committee
Genetics in Medicine, ISSN 1098-3600, 2014, Volume 16, Issue 2, pp. 188 - 200
Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria, results in the accumulation of phenylalanine in the blood of affected individuals... 
phenylalanine hydroxylase deficiency | maternal PKU | phenylketonuria | therapy | sapropterin | MUTATION ANALYSIS | EARLY-TREATED PHENYLKETONURIA | ADULT PATIENTS | SAPROPTERIN DIHYDROCHLORIDE | ANTICIPATES DIETARY REQUIREMENTS | TANDEM MASS-SPECTROMETRY | EXECUTIVE FUNCTION | ELEVATED LEVELS | GENETICS & HEREDITY | QUALITY-OF-LIFE | MATERNAL PHENYLKETONURIA | Phenylketonurias - therapy | Phenylketonurias - diagnosis | United States | Biopterin - therapeutic use | Humans | Child, Preschool | Infant | Phenylalanine - blood | Combined Modality Therapy | Biopterin - analogs & derivatives | Infant, Newborn | Index Medicus
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4. Full Text Peroxisome biogenesis disorders
by Steinberg, Steven J and Dodt, Gabriele and Raymond, Gerald V and Braverman, Nancy E and Moser, Ann B and Moser, Hugo W
BBA - Molecular Cell Research, ISSN 0167-4889, 2006, Volume 1763, Issue 12, pp. 1733 - 1748
Defects in PEX genes impair peroxisome assembly and multiple metabolic pathways confined to this organelle, thus providing the biochemical and molecular bases... 
Zellweger syndrome | Infantile refsum disease | PEX | Rhizomelic chondrodysplasia punctata | Neonatal adrenoleukodystrophy | infantile refsum disease | BIOCHEMISTRY & MOLECULAR BIOLOGY | rhizomelic chondrodysplasia punctata | COMPLEMENTATION GROUP G | neonatal adrenoleukodystrophy | TANDEM MASS-SPECTROMETRY | ALKYL-DIHYDROXYACETONEPHOSPHATE SYNTHASE | CELL BIOLOGY | PHENOTYPE-GENOTYPE RELATIONSHIPS | CHAIN FATTY-ACIDS | CEREBROHEPATORENAL ZELLWEGER SYNDROME | REFSUMS-DISEASE | HEPATO-RENAL SYNDROME | PRENATAL-DIAGNOSIS
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5. Full Text Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
by Yu, Timothy W and Chahrour, Maria H and Coulter, Michael E and Jiralerspong, Sarn and Okamura-Ikeda, Kazuko and Ataman, Bulent and Schmitz-Abe, Klaus and Harmin, David A and Adli, Mazhar and Malik, Athar N and D’Gama, Alissa M and Lim, Elaine T and Sanders, Stephan J and Mochida, Ganesh H and Partlow, Jennifer N and Sunu, Christine M and Felie, Jillian M and Rodriguez, Jacqueline and Nasir, Ramzi H and Ware, Janice and Joseph, Robert M and Hill, R. Sean and Kwan, Benjamin Y and Al-Saffar, Muna and Mukaddes, Nahit M and Hashmi, Asif and Balkhy, Soher and Gascon, Generoso G and Hisama, Fuki M and LeClair, Elaine and Poduri, Annapurna and Oner, Ozgur and Al-Saad, Samira and Al-Awadi, Sadika A and Bastaki, Laila and Ben-Omran, Tawfeg and Teebi, Ahmad S and Al-Gazali, Lihadh and Eapen, Valsamma and Stevens, Christine R and Rappaport, Leonard and Gabriel, Stacey B and Markianos, Kyriacos and State, Matthew W and Greenberg, Michael E and Taniguchi, Hisaaki and Braverman, Nancy E and Morrow, Eric M and Walsh, Christopher A
Neuron, ISSN 0896-6273, 01/2013, Volume 77, Issue 2, pp. 259 - 273
Despite significant heritability of autism spectrum disorders (ASDs), their extreme genetic heterogeneity has proven challenging for gene discovery. Studies of... 
NONKETOTIC HYPERGLYCINEMIA | COHEN-SYNDROME | DE-NOVO MUTATIONS | PTS2 RECEPTOR | GLYCINE CLEAVAGE SYSTEM | CRYSTAL-STRUCTURE | SPECTRUM DISORDERS | CLINICAL VARIABILITY | NEUROSCIENCES | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA | COPY-NUMBER VARIATION | Autistic Disorder - genetics | Humans | Cells, Cultured | Child, Preschool | Rats | Male | Young Adult | Exome - genetics | Animals | Pedigree | Adolescent | Female | Autistic Disorder - diagnosis | Genome-Wide Association Study - methods | Child | Sequence Analysis, DNA - methods | Cohort Studies | Navy-yards and naval stations | Enzymes | Medical colleges | Neurosciences | Genetic disorders | Orphans | Neurons | Genes | Diseases | Autism | Armed Forces | Gene mutations | Genetics | Genetic aspects | Children | Studies | Design | Parents & parenting | Families & family life | Genomes | Mutation | Behavior | Experiments
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6. Full Text Peroxisome-Mediated Metabolism Is Required for Immune Response to Microbial Infection
by Di Cara, Francesca and Sheshachalam, Avinash and Braverman, Nancy E and Rachubinski, Richard A and Simmonds, Andrew J
Immunity, ISSN 1074-7613, 07/2017, Volume 47, Issue 1, pp. 93 - 106.e7
The innate immune response is critical for animal homeostasis and is conserved from invertebrates to vertebrates. This response depends on specialized cells... 
phagocytosis | Pex7 | innate immunity | Drosophila | Pex5 | peroxisome | macrophage | reactive oxygen species (ROS) | immunodeficiency (IMD) pathway | PHAGOCYTOSIS | PHYSIOLOGY | REACTIVE OXYGEN | RECOGNITION | BIOGENESIS | DROSOPHILA-MELANOGASTER | MACROPHAGES | HOST-DEFENSE | DEGRADATION | IMMUNOLOGY | INNATE IMMUNITY | Reactive Oxygen Species - metabolism | Cytokines - metabolism | Peroxisomal Targeting Signal 2 Receptor | Signal Transduction | Staphylococcal Infections - immunology | Animals, Genetically Modified | Respiratory Burst | Mice, Inbred C57BL | Cells, Cultured | Lipid Metabolism | Receptors, Cytoplasmic and Nuclear - genetics | Immunity, Innate | Peroxisomes - metabolism | Mice, Knockout | Animals | Staphylococcus aureus - immunology | Mice | Drosophila melanogaster | Macrophages - immunology | Macrophages - microbiology | Receptors, Cytoplasmic and Nuclear - metabolism | Immune response | Bacterial infections | Wildlife conservation | Immunodeficiency | Physiological aspects | Lipids | Disease susceptibility | Macrophages | Health aspects | Homeostasis | Innate immunity | Biosynthesis | Infections | Immunity | Defects | Proteins | Microorganisms | E coli | Bacteria | Lipid metabolism | Immune system | Cellular manufacture | Pathogens | Cell survival | Metabolism | Organelles | Vertebrates | Peroxisomes | Insects | Cytoskeleton | Invertebrates | Phagocytosis
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7. Full Text Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines
by Braverman, Nancy E and Raymond, Gerald V and Rizzo, William B and Moser, Ann B and Wilkinson, Mark E and Stone, Edwin M and Steinberg, Steven J and Wangler, Michael F and Rush, Eric T and Hacia, Joseph G and Bose, Mousumi
Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2016, Volume 117, Issue 3, pp. 313 - 321
Peroxisome biogenesis disorders in the Zellweger spectrum (PBD-ZSD) are a heterogeneous group of genetic disorders caused by mutations in genes responsible for... 
Sensorineural hearing loss | Zellweger spectrum disorder | Very long-chain fatty acids | Peroxisome biogenesis disorders | Treatment guidelines | Retinal dystrophy | PEX genes | MEDICINE, RESEARCH & EXPERIMENTAL | MUTATIONAL SPECTRUM | PEX2 GENE | X-LINKED ADRENOLEUKODYSTROPHY | IDENTIFICATION | KETOGENIC DIET | THERAPY | METABOLISM | CHAIN FATTY-ACIDS | DOCOSAHEXAENOIC ACID | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | PHYTANIC ACID | Zellweger Syndrome - therapy | Peroxisomes - genetics | Peroxisomal Disorders - diagnosis | Genetic Testing | Membrane Proteins - genetics | Humans | Retinal Dystrophies - etiology | Zellweger Syndrome - diagnosis | Retinal Dystrophies - physiopathology | Phenotype | Hearing Loss, Sensorineural - etiology | Peroxisomal Disorders - therapy | PHEX Phosphate Regulating Neutral Endopeptidase - genetics | Adult | Mutation | Hearing Loss, Sensorineural - physiopathology | Practice Guidelines as Topic | Precision Medicine | Practice guidelines (Medicine) | Biosynthesis | Therapeutics | Homeopathy | Materia medica and therapeutics
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8. Full Text Peroxisome-Mediated Metabolism Is Required for Immune Response to Microbial Infection
by Di Cara, Francesca and Sheshachalam, Avinash and Braverman, Nancy E and Rachubinski, Richard A and Simmonds, Andrew J
Immunity, ISSN 1074-7613, 04/2018, Volume 48, Issue 4, pp. 832 - 833
IMMUNOLOGY | Microorganisms | Immune response | Metabolism | Immune system
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9. Full Text Ether Lipid Deficiency Does Not Cause Neutropenia or Leukopenia in Mice and Men
by Dorninger, Fabian and Wiesinger, Christoph and Braverman, Nancy E and Forss-Petter, Sonja and Berger, Johannes
Cell Metabolism, ISSN 1550-4131, 05/2015, Volume 21, Issue 5, pp. 650 - 651
In this Letter, Dorninger et al. show that the deficiency in ether lipid biosynthesis alone is not sufficient to induce neutropenia or leukopenia, as has been... 
SYSTEMIC ACTIVATION | CREER(T2) | DIRECT HEMATOLOGICAL TOXICITY | ENDOCRINOLOGY & METABOLISM | CELL BIOLOGY | Animals | Lipids - biosynthesis | Phospholipids - metabolism | Fatty Acid Synthases - metabolism | Neutrophils - metabolism | Humans | Analysis | Neutropenia
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10. Full Text Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives
by Braverman, Nancy E and D'Agostino, Maria Daniela and MacLean, Gillian E
Developmental Disabilities Research Reviews, ISSN 1940-5510, 06/2013, Volume 17, Issue 3, pp. 187 - 196
The peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive disorders in which peroxisome assembly is impaired, leading to... 
rhizomelic chondrodysplasia punctata | pharmacological therapies | Zellweger spectrum disorder | peroxisome biogenesis disorders | peroxisomal enzyme function | Peroxisomal enzyme function | Pharmacological therapies | Peroxisome biogenesis disorders | Rhizomelic chondrodysplasia punctata | ZELLWEGER-SYNDROME SPECTRUM | NEURONAL MIGRATION | PSYCHIATRY | MATRIX PROTEIN IMPORT | REFSUM-DISEASE | PROLONGED SURVIVAL | NEUROSCIENCES | CEREBROHEPATORENAL SYNDROME | CLINICAL NEUROLOGY | LIPID PLASMALOGEN PRECURSOR | IMPORT RECEPTOR PEX5P | PEDIATRICS | BILE-ACID TREATMENT | Therapy | Congenital Impairments | Drug Therapy | Biochemistry | Genetic Disorders | Clinical Diagnosis | Symptoms (Individual Disorders) | Medical Research | Peroxisomes - genetics | Peroxisomal Disorders - diagnosis | Age Factors | Humans | Zellweger Syndrome - genetics | PHEX Phosphate Regulating Neutral Endopeptidase - drug effects | Peroxisomal Disorders - metabolism | Zellweger Syndrome - diagnosis | Peroxisomes - metabolism | Phenotype | Animals | Peroxisomal Disorders - genetics | Age of Onset | PHEX Phosphate Regulating Neutral Endopeptidase - genetics | Peroxisomal Disorders - drug therapy | Zellweger Syndrome - metabolism | Mutation | Peroxisomal Disorders - physiopathology | Enzymes | Biosynthesis
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11. Full Text Low bone mineral density is a common feature of Zellweger spectrum disorders
by Rush, Eric T and Goodwin, Jennifer L and Braverman, Nancy E and Rizzo, William B
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2016, Volume 117, Issue 1, pp. 33 - 37
Patients with Zellweger Spectrum Disorders (ZSDs) have impaired peroxisome biogenesis and severe, multisystem disease. Although the neurologic symptoms of ZSD... 
Bisphosphonate | Pathologic fracture | Bone densitometry | Peroxisomal biogenesis disorder | Zellweger spectrum disorder | Bone mineral density | PPAR-gamma | MEDICINE, RESEARCH & EXPERIMENTAL | ADIPOGENESIS | OSTEOBLASTOGENESIS | GENE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | MUTATIONS | HEALTH | WNT | ATPases Associated with Diverse Cellular Activities | Bone Density - physiology | Membrane Proteins - genetics | Humans | Zellweger Syndrome - genetics | Bone Density Conservation Agents - therapeutic use | Child, Preschool | Infant | Male | Bone Density - genetics | Femur Neck | Zellweger Syndrome - physiopathology | PPAR gamma - metabolism | Absorptiometry, Photon | Peroxisomes - metabolism | Vitamin D - blood | Bone Density - drug effects | Lumbosacral Region | Adolescent | Female | Child | Osteogenesis | Bones | Calcifediol | Alfacalcidol | Vitamin D | Density
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12. Full Text Peroxisomes and cancer: The role of a metabolic specialist in a disease of aberrant metabolism
by Dahabieh, Michael S and Di Pietro, Erminia and Jangal, Maïka and Goncalves, Christophe and Witcher, Michael and Braverman, Nancy E and del Rincón, Sonia V
BBA - Reviews on Cancer, ISSN 0304-419X, 08/2018, Volume 1870, Issue 1, pp. 103 - 121
Cancer is irrevocably linked to aberrant metabolic processes. While once considered a vestigial organelle, we now know that peroxisomes play a central role in... 
Mitochondrion | Peroxisome | Metabolism | Pexophagy | Plasmalogen | Cancer | BETA-OXIDATION | HUMAN-SKIN FIBROBLASTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | PROLIFERATOR-ACTIVATED RECEPTOR | GENERATING ENZYME AGPS | RAT-LIVER PEROXISOMES | BIOPHYSICS | ONCOLOGY | DOCOSAHEXAENOIC ACID | ZELLWEGER-SYNDROME | METHYLACYL-COA RACEMASE | ACID ALPHA-OXIDATION | PHYTANIC ACID | Oxidases | Post-translational modification | Phosphates | Bile acids | Arsenic | Genes | Lipids | Arachidonic acid | Biological response modifiers | Monosaccharides | Unsaturated fatty acids | Metabolites | Physiological aspects | Interferon | Progesterone | Omega-3 fatty acids | Sugars
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