Works matching DE "PEROXISOMAL disorders"

Results: 286

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00497-1

By:

Keefe, Alexandra C.;
Jensen, Dana M.;
Pham, Meranda M.;
Au, Natalie Y T;
Beckman, Erika;
Penon-Portmann, Monica;
Shelkowitz, Emily;
Bend, Renee;
Morrow, Michelle M.;
Kruszka, Paul;
Vats, Divya;
Russell, Bianca E.;
Chan, Erica;
Wong, Derek;
Rabani, Ahna;
O'Grady, Lauren;
Sahai, Inderneel;
Widmeyer, Kimberly;
Sperry, Ethan D.;
Hallinan, Barbara E.

Publication type:

Article

Anesthesia for the child with Zellweger syndrome: a case report.

Published in:

2006

By:

Platis, C. M.;
Kachko, L.;
Peled, E.;
Katz, J.

Publication type:

Letter

Molecular Requirements for Peroxisomal Targeting of Alanine-Glyoxylate Aminotransferase as an Essential Determinant in Primary Hyperoxaluria Type 1.

Published in:

PLoS Biology, 2012, v. 10, n. 4, p. 1, doi. 10.1371/journal.pbio.1001309

By:

Fodor, Krisztián;
Wolf, Janina;
Erdmann, Ralf;
Schliebs, Wolfgang;
Wilmanns, Matthias

Publication type:

Article

Lipid partitioning after uninephrectomy.

Published in:

Acta Diabetologica, 2011, v. 48, n. 4, p. 317, doi. 10.1007/s00592-011-0286-9

By:

Zhao, Hai-Lu;
Sui, Yi;
He, Lan;
Guan, Jing;
Xiao, Sheng-Jun;
Zhong, Ding-Rong;
Xu, Qing;
Zeng, Si-En

Publication type:

Article

Postnatal expression pattern of PPARγ gene in pigs.

Published in:

Turkish Journal of Veterinary & Animal Sciences, 2009, v. 33, n. 4, p. 297, doi. 10.3906/vet-0802-21

By:

Junfang Jiang;
Yongqing Jiang;
Zhigang Zhu;
Zirong Xu

Publication type:

Article

Brainstem dominant form of X‐linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review.

Published in:

2024

By:

Kang, Yulai;
Guo, Lu;
Min, Zhuo;
Zhang, Lei;
Zhang, Lili;
Tang, Chunhua

Publication type:

Case Study

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

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1065

By:

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

Publication type:

Article

A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy.

Published in:

Case Reports in Genetics, 2019, p. 1, doi. 10.1155/2019/6148425

By:

Dekker, M. C. J.;
Sadiq, A. M.;
Mc Larty, R.;
Mbwasi, R. M.;
Willemsen, M. A. A. P.;
Waterham, H. R.;
Hamel, B. C.

Publication type:

Article

Side-Effects and Complications of Laser Treatment in Diabetic Retinal Disease.

Published in:

Seminars in Ophthalmology, 2014, v. 29, n. 5/6, p. 290, doi. 10.3109/08820538.2014.959198

By:

Deschler, Emily K.;
Sun, Jennifer K.;
Silva, Paolo S.

Publication type:

Article

Systemic Diseases Associated with Retinal Dystrophies.

Published in:

Seminars in Ophthalmology, 2014, v. 29, n. 5/6, p. 319, doi. 10.3109/08820538.2014.959202

By:

Werdich, Xiang Q.;
Place, Emily M.;
Pierce, Eric A.

Publication type:

Article

Assignment[sup 1] of human fatty-acid-Coenzyme A ligase, very long-chain 1 gene (FACVL1) to human chromosome band 15q21.2 by fluorescence in situ hybridization.

Published in:

Cytogenetics & Cell Genetics, 1998, v. 81, n. 3/4, p. 292, doi. 10.1159/000015051

By:

Wakui, K.;
Aoyama, T.;
Uchiyama, A.;
Hashimoto, T.;
Fukushima, Y.

Publication type:

Article

Zellweger syndrome and secondary mitochondrial myopathy.

Published in:

European Journal of Pediatrics, 2015, v. 174, n. 4, p. 557, doi. 10.1007/s00431-014-2431-2

By:

Salpietro, Vincenzo;
Phadke, Rahul;
Saggar, Anand;
Hargreaves, Iain;
Yates, Robert;
Fokoloros, Christos;
Mankad, Kshitij;
Hertecant, Jozef;
Ruggieri, Martino;
McCormick, David;
Kinali, Maria

Publication type:

Article

Adrenal Insufficiency in Peroxisomal Disorders: A Single Institution Case Series.

Published in:

Hormone Research in Paediatrics, 2023, v. 96, n. 4, p. 439, doi. 10.1159/000529126

By:

Gagnon, Charles;
Hurst, Anna C.E.;
Ashraf, Ambika P.

Publication type:

Article

X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES.

Published in:

Revista Paulista de Pediatria, 2019, v. 37, n. 4, p. 465, doi. 10.1590/1984-0462/;2019;37;4;00015

By:

Schumacher Furlan, Fernanda Luiza;
Andres Lemes, Macleise;
Fuverki Suguimatsu, Ligia Cecilia;
Furquim Pires, Carolina Teixeira;
Schmitz Ferreira Santos, Mara Lucia

Publication type:

Article

Anesthetic management of an adult patient with childhood x-linked adrenoleukodystrophy.

Published in:

Anaesthesia, Pain & Intensive Care, 2019, v. 23, n. 1, p. 78

By:

Gupta, Jyoti;
Arora, Divesh

Publication type:

Article

Biomedical Vignette.

Published in:: Journal of Biomedical Science, 2004, v. 11, n. 5, p. 539, doi. 10.1007/BF02256118
Publication type:: Article

Antioxidants Attenuate Diabetes-Induced Activation of Peroxisomal Functions in the Rat Kidney.

Published in:

Journal of Biomedical Science, 2004, v. 11, n. 5, p. 566, doi. 10.1007/BF02256120

By:

Dhaunsi, Gursev S.;
Bitar, Milad S.

Publication type:

Article

Peroxisomes and peroxisomal transketolase and transaldolase enzymes are essential for xylose alcoholic fermentation by the methylotrophic thermotolerant yeast, Ogataea (Hansenula) polymorpha.

Published in:

Biotechnology for Biofuels, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13068-018-1203-z

By:

Kurylenko, Olena O.;
Ruchala, Justyna;
Vasylyshyn, Roksolana V.;
Stasyk, Oleh V.;
Dmytruk, Olena V.;
Dmytruk, Kostyantyn V.;
Sibirny, Andriy A.

Publication type:

Article

Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra.

Published in:

Pediatric Rheumatology, 2016, v. 14, p. 1, doi. 10.1186/s12969-016-0081-9

By:

Peciuliene, Skaiste;
Burnyte, Birute;
Gudaitiene, Rymanta;
Rusoniene, Skirmante;
Drazdiene, Nijole;
Liubsys, Arunas;
Utkus, Algirdas

Publication type:

Article

Alpha-methyl acetyl-coA racemase deficiency. Magnetic resonance imaging findings of three patients with encephalopathy, epilepsy, and stroke-like episodes.

Published in:

Neuroradiology Journal, 2024, v. 37, n. 3, p. 351, doi. 10.1177/19714009231187342

By:

Palacio-Montoya, Maria I;
Herrera, Diego A;
Vargas, Sergio A;
Castillo, Mauricio

Publication type:

Article

Zellweger syndrome: Depiction of MRI findings in early infancy at 3.0 Tesla.

Published in:

Neuroradiology Journal, 2017, v. 30, n. 5, p. 442, doi. 10.1177/1971400917700670

By:

Pfeifer, Cory M.;
Martinot, Carlos A.

Publication type:

Article

Association Between Peroxisomal Biogenesis Factor 7 and Autism Spectrum Disorders in a Korean Population.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 10, p. 1270, doi. 10.1177/0883073811435507

By:

Ro, MyungJa;
Park, JungWon;
Nam, Min;
Bang, Hee Jung;
Yang, JaeWon;
Choi, Kyung-Sik;
Kim, Su Kang;
Chung, Joo-Ho;
Kwack, KyuBum

Publication type:

Article

Peroxisomal Dysfunction in Inflammatory Childhood White Matter Disorders: An Unexpected Contributor to Neuropathology.

Published in:

Journal of Child Neurology, 2009, v. 24, n. 9, p. 1147, doi. 10.1177/0883073809338327

By:

Singh, Inderjit;
Singh, Avtar K.;
Contreras, Miguel A.

Publication type:

Article

Three Novel Variants in X-linked Adrenoleukodystrophy.

Published in:

Journal of Child Neurology, 2009, v. 24, n. 7, p. 857, doi. 10.1177/0883073808330764

By:

Shukla, Pallavi;
Gupta, Neerja;
Kabra, Madhulika;
Ghosh, Manju;
Sharma, Raju;
Gupta, Arun K.;
Gulati, Sheffali;
Kalra, Veena

Publication type:

Article

Molecular and Neurologic Findings of Peroxisome Biogenesis Disorders.

Published in:

Journal of Child Neurology, 2005, v. 20, n. 4, p. 326, doi. 10.1177/08830738050200041001

By:

Shimozawa, Nobuyuki

Publication type:

Article

Diagnosis and Follow-Up of a Case of Peroxisomal Disorder With Peroxisomal Mosaicism.

Published in:

Journal of Child Neurology, 1999, v. 14, n. 7, p. 434

By:

Pineda, Mercedes;
Giros, Marisa;
Roels, Frank;
Espeel, Marc;
Ruiz, Montserrat;
Moser, Ann;
Moser, Hugo W.;
Wanders, Ronald J.A.;
Pavia, Carlos;
Conill, Juan;
Aracil, Asuncion;
Amat, Luis;
Pampols, Teresa

Publication type:

Article

Peroxisomal defects in microglial cells induce a disease-associated microglial signature.

Published in:

Frontiers in Molecular Neuroscience, 2023, p. 1, doi. 10.3389/fnmol.2023.1170313

By:

Raas, Quentin;
Tawbeh, Ali;
Tahri-Joutey, Mounia;
Gondcaille, Catherine;
Keime, Céline;
Kaiser, Romain;
Trompier, Doriane;
Nasser, Boubker;
Leoni, Valerio;
Bellanger, Emma;
Boussand, Maud;
Hamon, Yannick;
Benani, Alexandre;
Di Cara, Francesca;
Truntzer, Caroline;
Cherkaoui-Malki, Mustapha;
Andreoletti, Pierre;
Savary, Stéphane

Publication type:

Article

Neurochemical Evidence that Pristanic Acid Impairs Energy Production and Inhibits Synaptic Na, K-ATPase Activity in Brain of Young Rats.

Published in:

Neurochemical Research, 2011, v. 36, n. 6, p. 1101, doi. 10.1007/s11064-011-0453-y

By:

Busanello, Estela;
Viegas, Carolina;
Tonin, Anelise;
Grings, Mateus;
Moura, Alana;
Oliveira, Anderson;
Eichler, Paula;
Wajner, Moacir

Publication type:

Article

Peroxisomal Disorders: A Review on Cerebellar Pathologies.

Published in:

Brain Pathology, 2015, v. 25, n. 6, p. 663, doi. 10.1111/bpa.12290

By:

De Munter, Stephanie;
Verheijden, Simon;
Régal, Luc;
Baes, Myriam

Publication type:

Article

Biochemical Aspects of X-Linked Adrenoleukodystrophy.

Published in:

Brain Pathology, 2010, v. 20, n. 4, p. 831, doi. 10.1111/j.1750-3639.2010.00391.x

By:

Kemp, Stephan;
Wanders, Ronald

Publication type:

Article

Clinical features and molecular genetics of autosomal recessive ataxia in the Turkish population.

Published in:

Journal of Pediatric Neurosciences, 2020, v. 15, n. 2, p. 86, doi. 10.4103/jpn.JPN_145_18

By:

Incecik, Faruk;
Herguner, Ozlem;
Mungan, Neslihan

Publication type:

Article

Valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria.

Published in:

Journal of Pediatric Neurosciences, 2015, v. 10, n. 2, p. 140, doi. 10.4103/1817-1745.159203

By:

Murgai, Aditya;
Deshmukh, Aviraj;
Puri, Vinod;
Chaudhry, Neera;
Kapoor, Seema

Publication type:

Article

CHALLENGES IN GENETIC COUNSELLING ARISING FROM THE RISK OF MULTIPLE GENETIC CONDITIONS IN A SINGLE FAMILY.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 70

By:

Ward, Alana;
DeBaroid, Cliona;
Lynch, Sally-Ann

Publication type:

Article

Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes.

Published in:

Turkish Journal of Pediatrics, 2019, v. 61, n. 2, p. 289, doi. 10.24953/turkjped.2019.02.023

By:

Gündüz, Mehmet;
Ünal, Özlem;
Küçükçongar-Yavaş, Aynur;
Kasapkara, Çiğdem

Publication type:

Article

Effect of a Large Dose of Di (2-ethylhexyl) phthalate (DEHP) on Hepatic Peroxisome in Cynomolgus Monkeys (Macaca Fascicularis).

Published in:

Journal of Toxicologic Pathology, 2010, v. 23, n. 2, p. 75, doi. 10.1293/tox.23.75

By:

Satake, Shigeru;
Nakamura, Chika;
Minamide, Yoshiyuki;
Kudo, Shinobu;
Maeda, Hiroshi;
Chihaya, Yutaka;
Kamimura, Yasuhiro;
Miyajima, Hiroaki;
Sasaki, Jun;
Goryo, Masanobu;
Okada, Kosuke

Publication type:

Article

Reduction of n-3 PUFAs, specifically DHA and EPA, and enhancement of peroxisomal beta-oxidation in type 2 diabetic rat heart.

Published in:

Cardiovascular Diabetology, 2012, v. 11, n. 1, p. 126, doi. 10.1186/1475-2840-11-126

By:

Lianguo Hou;
Kaoqi Lian;
Min Yao;
Yun Shi;
Xin Lu;
Lijia Fang;
Tianbo He;
Lingling Jiang

Publication type:

Article

Pathogenesis of peroxisomal deficiency disorders (Zellweger syndrome) may be mediated by misregulation of the GABAergic system via the dishpan binding inhibitor.

Published in:

BMC Pediatrics, 2004, v. 4, p. 1

By:

Breitling, Rainer

Publication type:

Article

Research highlights.

Published in:

2010

By:

Chen, Inês;
Eggleston, Angela K.;
Heinrichs, Arianne

Publication type:

Abstract

Extracts of black and brown rice powders improve hepatic lipid accumulation via the activation of PPARα in obese and diabetic model mice.

Published in:

Bioscience, Biotechnology & Biochemistry, 2017, v. 81, n. 11, p. 2209, doi. 10.1080/09168451.2017.1372178

By:

Felix, Angelina DR;
Takahashi, Nobuyuki;
Takahashi, Mami;
Katsumata-Tsuboi, Rie;
Satoh, Ryo;
Soon Hui, Teoh;
Miyajima, Katsuhiro;
Nakae, Dai;
Inoue, Hirofumi;
Uehara, Mariko

Publication type:

Article

Sequential lipidomic, metabolomic, and proteomic analyses of serum, liver, and heart tissue specimens from peroxisomal biogenesis factor 11α knockout mice.

Published in:

Analytical & Bioanalytical Chemistry, 2022, v. 414, n. 6, p. 2235, doi. 10.1007/s00216-021-03860-0

By:

Garikapati, Vannuruswamy;
Colasante, Claudia;
Baumgart-Vogt, Eveline;
Spengler, Bernhard

Publication type:

Article

Understanding renal nuclear protein accumulation: an in vitro approach to explain an in vivo phenomenon.

Published in:

Archives of Toxicology, 2017, v. 91, n. 11, p. 3599, doi. 10.1007/s00204-017-1970-5

By:

Luks, Lisanne;
Maier, Marcia;
Sacchi, Silvia;
Pollegioni, Loredano;
Dietrich, Daniel

Publication type:

Article

SCA34 caused by ELOVL4 L168F mutation is a lysosomal lipid storage disease sharing pathology features with neuronal ceroid lipofuscinosis and peroxisomal disorders.

Published in:

Acta Neuropathologica, 2023, v. 146, n. 2, p. 337, doi. 10.1007/s00401-023-02582-0

By:

Ellezam, Benjamin;
Kaseka, Matsanga L.;
Nguyen, Dang Khoa;
Michaud, Jean

Publication type:

Article

Docosahexaenoic acid attenuates the rewarding property of nicotine-induced conditioned place preference in male rats.

Published in:

International Journal of Medical Biochemistry, 2022, v. 5, n. 3, p. 166, doi. 10.14744/ijmb.2022.84803

By:

Shahzadi, Andleeb;
Ozyazgan, Sibel

Publication type:

Article

Preimplantation genetic diagnosis for Zellweger syndrome.

Published in:

Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2008, v. 16, p. S-29, doi. 10.1016/S1472-6483(10)61368-5

By:

I., Barsky;
S., Rechitsky;
T., Sharapova;
T., Linnik;
O., Verlinsky;
A., Kuliev;
Y., Verlinsky

Publication type:

Article

Dual peroxisome proliferator-activated receptor agonist demonstrates significant lipid benefits.

Published in:: Formulary, 2005, v. 40, n. 8, p. 270
Publication type:: Article

Fenofibrate promotes PPARα-targeted recovery of the intestinal epithelial barrier at the host-microbe interface in dogs with diabetes mellitus.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-92966-7

By:

Crakes, Katti R.;
Pires, Jully;
Quach, Nina;
Ellis-Reis, Riley E.;
Greathouse, Rachel;
Chittum, Kathyrnne A.;
Steiner, Jörg M.;
Pesavento, Patricia;
Marks, Stanley L.;
Dandekar, Satya;
Gilor, Chen

Publication type:

Article

Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-71248-8

By:

Rattay, Tim W.;
Rautenberg, Maren;
Söhn, Anne S.;
Hengel, Holger;
Traschütz, Andreas;
Röben, Benjamin;
Hayer, Stefanie N.;
Schüle, Rebecca;
Wiethoff, Sarah;
Zeltner, Lena;
Haack, Tobias B.;
Cegan, Alexander;
Schöls, Ludger;
Schleicher, Erwin;
Peter, Andreas

Publication type:

Article

The challenge of nutritional profiling of a protein-free feed module for children on low protein tube feeds with organic acidaemias.

Published in:

Journal of Human Nutrition & Dietetics, 2017, v. 30, n. 3, p. 292, doi. 10.1111/jhn.12455

By:

Daly, A.;
Evans, S.;
Ashmore, C.;
Chahal, S.;
Santra, S.;
MacDonald, A.

Publication type:

Article

The peroxisomal importomer constitutes a large and highly dynamic pore.

Published in:

Nature Cell Biology, 2010, v. 12, n. 3, p. 273, doi. 10.1038/ncb2027

By:

Meinecke, Michael;
Cizmowski, Christian;
Schliebs, Wolfgang;
Krüger, Vivien;
Beck, Sabrina;
Wagner, Richard;
Erdmann, Ralf

Publication type:

Article

Detection and Quantification of Free Radicals in Peroxisomal Disorders: A Comparative Study with Oxidative Stress Parameters.

Published in:

Journal of Clinical & Diagnostic Research, 2015, v. 9, n. 11, p. 17, doi. 10.7860/JCDR/2015/15629.6788

By:

ABD-ELMAKSOUD, SOHAIR ABD-EL MAWGOOD;
EL-BASSYOUNI, HALA;
AFIFI, HANAN;
THOMAS, MANAL MICHEAL;
IBRAHIM, ALSHAYMAA AHMED;
SHALABY, ALIAA;
HAMID, TAMER AHMED ABDEL;
HAMID, NEHAL ABDEL;
EL-GHOBARY, HANY

Publication type:

Article