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Peroxisomal Disorders

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Peroxisomal Dysfunction in Neurological Diseases and Brain Aging.

Ndidi-Ese Uzor, Louise D McCullough, Andrey S Tsvetkov,

Peroxisomes exist in most cells, where they participate in lipid metabolism, as well as scavenging the reactive oxygen species (ROS) that are produced as by-products of their metabolic functions. In certain tissues such as the liver and kidneys, peroxisomes have more specific roles, such as bile acid synthesis in the ... Read more >>

Front Cell Neurosci (Frontiers in Cellular Neuroscience)
[2020, 14:44]

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Mitochondrial fission factor (MFF) is a critical regulator of peroxisome maturation.

Josiah B Passmore, Ruth E Carmichael, Tina A Schrader, Luis F Godinho, Sacha Ferdinandusse, Celien Lismont, Yunhong Wang, Christian Hacker, Markus Islinger, Marc Fransen, David M Richards, Peter Freisinger, Michael Schrader,

Peroxisomes are highly dynamic subcellular compartments with important functions in lipid and ROS metabolism. Impaired peroxisomal function can lead to severe metabolic disorders with developmental defects and neurological abnormalities. Recently, a new group of disorders has been identified, characterised by defects in the membrane dynamics and division of peroxisomes rather ... Read more >>

Biochim Biophys Acta Mol Cell Res (Biochimica et biophysica acta. Molecular cell research)
[2020, :118709]

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Accurate and live peroxisome biogenesis evaluation achieved by lentiviral expression of a green fluorescent protein fused to a peroxisome targeting signal 1.

Tanguy Demaret, Guillaume E Courtoy, Joachim Ravau, Patrick Van Der Smissen, Mustapha Najimi, Etienne M Sokal,

Peroxisomes are ubiquitous organelles formed by peroxisome biogenesis (PB). During PB, peroxisomal matrix proteins harboring a peroxisome targeting signal (PTS) are imported inside peroxisomes by peroxins, encoded by PEX genes. Genetic alterations in PEX genes lead to a spectrum of incurable diseases called Zellweger spectrum disorders (ZSD). In vitro drug ... Read more >>

Histochem. Cell Biol. (Histochemistry and cell biology)
[2020, :]

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Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.

Gema García-García, Iker Sanchez-Navarro, Elena Aller, Teresa Jaijo, Carla Fuster-Garcia, Ana Rodríguez-Munoz, Elena Vallejo, Juan José Tellería, Selma Vázquez, Sergi Beltrán, Sophia Derdak, Olga Zurita, Cristina Villaverde-Montero, Almudena Avila-Fernández, Marta Corton, Fiona Blanco-Kelly, Hakon Hakonarson, José M Millán, Carmen Ayuso,

Purpose:The aim of the present work is the molecular diagnosis of three patients with deafness and retinal degeneration. Methods:Three patients from two unrelated families were initially analyzed with custom gene panels for Usher genes, non-syndromic hearing loss, or inherited syndromic retinopathies and further investigated by means of clinical or whole ... Read more >>

Mol. Vis. (Molecular vision)
[2020, 26:216-225]

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Two different missense mutations of PEX genes in two similar patients with severe Zellweger syndrome: an argument on the genotype-phenotype correlation.

Cengiz Havali, Sevil Dorum, Yılmaz Akbaş, Orhan Görükmez, Tugba Hirfanoglu,

Background Peroxisomal biogenesis disorders (PBDs) include a miscellaneous group of diseases which cause serious multisystem disease. Mutations of 13 different PEX genes lead to PBDs including Zellweger syndrome (ZS). Different types of mutations of PEX1 and PEX10 genes are correlated with broad-range phenotypes of PBDs. Case presentation Patient 1 is ... Read more >>

J. Pediatr. Endocrinol. Metab. (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, 33(3):437-441]

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Fit-for-purpose biomarker LC-MS/MS qualification for the quantitation of very long chain fatty acids in human cerebrospinal fluid.

John Williams, Kan Zhu, Eric Crampon, André Iffland,

Aim: Very long chain fatty acids (VLCFAs) have been identified as biomarkers for several peroxisomal disorders necessitating the need for reliable biomarker assays in particular C20, C22, C24, C26 in cerebrospinal fluid (CSF). Until now no absolute quantitation assay for total VLCFAs in CSF has been successfully developed and qualified ... Read more >>

Bioanalysis (Bioanalysis)
[2020, 12(3):143-158]

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Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel MFF gene mutation in a young child.

Isha Panda, Istaq Ahmad, Shakti Sagar, Sana Zahra, Uzma Shamim, Suvasini Sharma, Mohammed Faruq,

Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by mitochondrial fission factor (MFF) gene mutation is a rare neurogenetic disorder. Pathogenic MFF mutations have been described in three reports in literature so far. We report a young child of Indian descent who presented to us with global developmental ... Read more >>

Clin. Genet. (Clinical genetics)
[2020, :]

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Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism.

Dylan Mordaunt, David Cox, Maria Fuller,

Early diagnosis of inborn errors of metabolism (IEM)-a large group of congenital disorders-is critical, given that many respond well to targeted therapy. Newborn screening programs successfully capture a proportion of patients enabling early recognition and prompt initiation of therapy. For others, the heterogeneity in clinical presentation often confuses diagnosis with ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(4):]

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First person – Wedad Fallatah and Tara Smith.

ABSTRACTFirst Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Wedad Fallatah and Tara Smith are co-first authors on ‘Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity ... Read more >>

Dis Model Mech (Disease models & mechanisms)
[2020, 13(1):]

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The Peroxisomal PTS1-Import Defect of PEX1- Deficient Cells Is Independent of Pexophagy in Saccharomyces cerevisiae.

Thomas Mastalski, Rebecca Brinkmeier, Harald W Platta,

The important physiologic role of peroxisomes is shown by the occurrence of peroxisomal biogenesis disorders (PBDs) in humans. This spectrum of autosomal recessive metabolic disorders is characterized by defective peroxisome assembly and impaired peroxisomal functions. PBDs are caused by mutations in the peroxisomal biogenesis factors, which are required for the ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(3):]

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Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Irene De Biase, Silvia Tortorelli, Lisa Kratz, Steven J Steinberg, Kristina Cusmano-Ozog, Nancy Braverman, ,

Peroxisomal disorders are a clinically and genetically heterogeneous group of diseases caused by defects in peroxisomal biogenesis or function, usually impairing several metabolic pathways. Peroxisomal disorders are rare; however, the incidence may be underestimated due to the broad spectrum of clinical presentations. The inclusion of X-linked adrenoleukodystrophy to the Recommended ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2019, :]

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Mitochondrial fission factor (MFF) is a critical regulator of peroxisome maturation

Josiah Passmore, Ruth Carmichael, Tina Schrader, Luis Godinho, Sacha Ferdinandusse, Celien Lismont, Yunhong Wang, Christian Hacker, Markus Islinger, Marc Fransen, David Richards, Peter Freisinger, Michael Schrader,

Abstract Peroxisomes are highly dynamic subcellular compartments with important functions in lipid and ROS metabolism. Impaired peroxisomal function can lead to severe metabolic disorders with developmental defects and neurological abnormalities. Recently, a new group of disorders has been identified, characterised by defects in the membrane dynamics and division of peroxisomes ... Read more >>

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A Genetic Screen for Genes That Impact Peroxisomes in Drosophila Identifies Candidate Genes for Human Disease.

Hillary K Graves, Sharayu Jangam, Kai Li Tan, Antonella Pignata, Elaine S Seto, Shinya Yamamoto, Michael F Wangler,

Peroxisomes are subcellular organelles that are essential for proper function of eukaryotic cells. In addition to being the sites of a variety of oxidative reactions, they are crucial regulators of lipid metabolism. Peroxisome loss or dysfunction leads to multi-system diseases in humans that strongly affect the nervous system. In order ... Read more >>

G3 (Bethesda) (G3 (Bethesda, Md.))
[2020, 10(1):69-77]

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Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina.

Stacey Lee, Kristin Clinard, Sarah P Young, Catherine W Rehder, Zheng Fan, Ali S Calikoglu, Deeksha S Bali, Donald B Bailey, Lisa M Gehtland, David S Millington, Hari S Patel, Sara E Beckloff, Scott J Zimmerman, Cynthia M Powell, Jennifer L Taylor,

Importance:X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal genetic disorder in which an accumulation of very long-chain fatty acids leads to inflammatory demyelination in the central nervous system and to adrenal cortex atrophy. In 2016, X-ALD was added to the US Recommended Uniform Screening Panel. Objective:To evaluate the performance of a single-tier ... Read more >>

JAMA Netw Open (JAMA network open)
[2020, 3(1):e1920356]

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X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies.

Bela R Turk, Christiane Theda, Ali Fatemi, Ann B Moser,

Adrenoleukodystrophy (ALD) is a rare X-linked disease caused by a mutation of the peroxisomal ABCD1 gene. This review summarizes our current understanding of the pathogenic cell- and tissue-specific roles of lipid species in the context of experimental therapeutic strategies and provides an overview of critical historical developments, therapeutic trials and ... Read more >>

Int. J. Dev. Neurosci. (International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience)
[2020, 80(1):52-72]

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Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia - An unusual cause of dementia.

Sigrid Klotz, Franz Riederer, Nora Hergovich, Thomas Schlager, Lara Steinkellner, Elisabeth Fertl, Cristoph Baumgartner, Alexander Zimprich, Ellen Gelpi,

Clin. Neuropathol. (Clinical neuropathology)
[2020, 39(1):4-6]

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Pexophagy: A Model for Selective Autophagy.

Kyla Germain, Peter K Kim,

The removal of damaged or superfluous organelles from the cytosol by selective autophagy is required to maintain organelle function, quality control and overall cellular homeostasis. Precisely how substrate selectivity is achieved, and how individual substrates are degraded during selective autophagy in response to both extracellular and intracellular cues is not ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(2):]

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Pediatric liver diseases and ocular changes: What hepatologists and ophthalmologists should know and share with each other.

Livio Vitiello, Maddalena De Bernardo, Salvatore Guercio Nuzio, Claudia Mandato, Nicola Rosa, Pietro Vajro,

Several rare pediatric liver disorders are accompanied by ophthalmic signs whose awareness and early identification may be of value in confirming/accelerating their diagnosis. Many of these signs are asymptomatic and can only be detected with an ophthalmological examination. Corneal signs are described in patients with Wilson's disease, Alagille's syndrome and ... Read more >>

Dig Liver Dis (Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver)
[2020, 52(1):1-8]

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Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy.

Wen-Jiao Luo, Qiao Wei, Hai-Lin Dong, Yang-Tian Yan, Mei-Jiao Chen, Hong-Fu Li,

BACKGROUND:X-linked adrenoleukodystrophy (ALD) is one of the most common peroxisomal disorders characterized by abnormal accumulation of very long-chain fatty acids (VLCFA) in plasma and tissues and caused by mutations within ABCD1. Clinically, ALD present with various phenotypes, ranging from asymptomatic type to rapidly progressive childhood cerebral form. However, no remarkable ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2020, 8(1):e1065]

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Docosahexaenoic Acid Attenuates Mitochondrial Alterations and Oxidative Stress Leading to Cell Death Induced by Very Long-Chain Fatty Acids in a Mouse Oligodendrocyte Model.

Thomas Nury, Margaux Doria, Gérard Lizard, Anne Vejux,

In the case of neurodegenerative pathologies, the therapeutic arsenal available is often directed towards the consequences of the disease. The purpose of this study is, therefore, to evaluate the ability of docosahexaenoic acid (DHA), a molecule present in certain foods and considered to have health benefits, to inhibit the cytotoxic ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(2):]

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Peroxisomal footprint in the pathogenesis of nonalcoholic steatohepatitis.

S M Touhidul Islam, Jeseong Won, Mushfiquddin Khan, Kenneth D Chavin, Inderjit Singh,

Nonalcoholic steatohepatitis (NASH) is a form of fatty liver disease where benign hepatic steatosis leads to chronic inflammation in the steatotic liver of a patient without any history of alcohol abuse. Mechanisms underlying the progression of hepatic steatosis to NASH have long been investigated. This review outlines the potential role ... Read more >>

Ann Hepatol (Annals of hepatology)
[2019, :]

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The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophy.

Andrea Coppa, Sanjib Guha, Stéphane Fourcade, Janani Parameswaran, Montserrat Ruiz, Ann B Moser, Agatha Schlüter, Michael P Murphy, Jose Miguel Lizcano, Antonio Miranda-Vizuete, Esther Dalfó, Aurora Pujol,

Adrenoleukodystrophy is a neurometabolic disorder caused by a defective peroxisomal ABCD1 transporter of very long-chain fatty acids (VLCFAs). Its pathogenesis is incompletely understood. Here we characterize a nematode model of X-ALD with loss of the pmp-4 gene, the worm orthologue of ABCD1. These mutants recapitulate the hallmarks of X-ALD: i) ... Read more >>

Free Radic. Biol. Med. (Free radical biology & medicine)
[2020, :]

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Pex13 and Pex14, the key components of the peroxisomal docking complex, are required for peroxisome formation, host infection and pathogenicity-related morphogenesis in Magnaporthe oryzae.

Jiao-Yu Wang, Ling Li, Rong-Yao Chai, Hai-Ping Qiu, Zhen Zhang, Yan-Li Wang, Xiao-Hong Liu, Fu-Cheng Lin, Guo-Chang Sun,

Peroxisomes are ubiquitous organelles in eukaryotic cells that fulfill multiple important metabolisms. Pex13 and Pex14 are key components of the peroxisomal docking complex in yeasts and mammals. In the present work, we functionally characterized the homologues of Pex13 and Pex14 (Mopex13 and Mopex14) in the rice blast fungus Magnaporthe oryzae. ... Read more >>

Virulence (Virulence)
[2019, 10(1):292-314]

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X-Linked Adrenoleukodystrophy Mimicking Hereditary Spastic Paraplegia.

Vinícius Boaratti Ciarlariello, Júlian Letícia de Freitas, José Luiz Pedroso, Orlando G P Barsottini,

Mov Disord Clin Pract (Movement Disorders Clinical Practice)
[2020, 7(1):109-110]

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Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation.

Fabiana Longo, Sara Benedetti, Alberto A Zambon, Maria Grazia Natali Sora, Chiara Di Resta, Daniele De Ritis, Angelo Quattrini, Francesca Maltecca, Maurizio Ferrari, Stefano Carlo Previtali,

Mitochondria undergo continuous cycles of fusion and fission in response to physiopathological stimuli. The key player in mitochondrial fission is dynamin-related protein 1 (DRP1), a cytosolic protein encoded by dynamin 1-like (DNM1L) gene, which relocalizes to the outer mitochondrial membrane, where it assembles, oligomerizes and drives mitochondrial division upon guanosine-5'-triphosphate ... Read more >>

Hum. Mol. Genet. (Human molecular genetics)
[2020, 29(2):177-188]

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