Works matching DE "PEROXISOMAL disorders"

Results: 286

Research highlights.

Published in:

2010

By:

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

Publication type:

Abstract

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

Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 64, doi. 10.3390/ijns9040064

By:

Prinzi, Julia;
Pasquali, Marzia;
Hobert, Judith A.;
Palmquist, Rachel;
Wong, Kristen N.;
Francis, Stephanie;
De Biase, Irene

Publication type:

Article

Parental Depression and Anxiety Associated with Newborn Bloodspot Screening for Rare and Variable-Onset Disorders.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 59, doi. 10.3390/ijns8040059

By:

Boychuk, Natalie A.;
Mulrooney, Niamh S.;
Kelly, Nicole R.;
Goldenberg, Aaron J.;
Silver, Ellen J.;
Wasserstein, Melissa P.

Publication type:

Article

Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 2, p. 24, doi. 10.3390/ijns8020024

By:

Priestley, Jessica R. C.;
Adang, Laura A.;
Drewes Williams, Sarah;
Lichter-Konecki, Uta;
Menello, Caitlin;
Engelhardt, Nicole M.;
DiPerna, James C.;
DiBoscio, Brenda;
Ahrens-Nicklas, Rebecca C.;
Edmondson, Andrew C.;
Reynoso Santos, Francis Jeshira;
Ficicioglu, Can

Publication type:

Article

Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 16, doi. 10.3390/ijns8010016

By:

Moser, Ann B.;
Seeger, Elisa;
Raymond, Gerald V.

Publication type:

Article

Pros and Cons of Telemedicine for Inherited Metabolic Disorders in a Developing Country During the COVID-19 Pandemic.

Published in:

Telemedicine & e-Health, 2022, v. 28, n. 11, p. 1604, doi. 10.1089/tmj.2021.0610

By:

Koç Yekedüz, Merve;
Doğulu, Neslihan;
Sürücü Kara, İlknur;
Öncül, Ümmühan;
Bakirarar, Batuhan;
Kullu, Pinar;
Ar, Yilmaz;
Köse, Engin;
Eminoğlu, Fatma Tuba

Publication type:

Article

LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders.

Published in:

Metabolites (2218-1989), 2021, v. 11, n. 6, p. 347, doi. 10.3390/metabo11060347

By:

Klemp, Henry Gerd;
Kettwig, Matthias;
Streit, Frank;
Gärtner, Jutta;
Rosewich, Hendrik;
Krätzner, Ralph

Publication type:

Article

Peroxisomal acyl-CoA oxidase deficiency: one case report and literature review.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2021, v. 21, n. 4, p. 281, doi. 10.3969/j.issn.1672-6731.2021.04.009

By:

YOU Hua-jing;
TIAN Yang;
LI Xun-hua;
LI Xiao-jing;
PEI Zhong

Publication type:

Article

Peroxisome proliferator activated receptor-α agonists suppress transforming growth factor-α-induced matrix metalloproteinase-9 expression in human keratinocytes.

Published in:

Clinical & Experimental Dermatology, 2011, v. 36, n. 8, p. 911, doi. 10.1111/j.1365-2230.2011.04125.x

By:

Meissner, M.;
Berlinski, B.;
Gille, J.;
Doll, M.;
Kaufmann, R.

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

Organelle disease: peroxisomal disorders.

Published in:

European Journal of Pediatrics, 2000, v. 159, n. 15, p. S236, doi. 10.1007/PL00014410

By:

Gärtner, Jutta

Publication type:

Article

Case report: Episodic psychosis caused by a novel SCP2 splicing mutation.

Published in:

Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1270793

By:

Haiyan Tang;
Yingying Luo;
Zhenchu Tang;
Jianguang Tang;
Jia Fang

Publication type:

Article

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.

Published in:

Genes, 2021, v. 12, n. 12, p. 1930, doi. 10.3390/genes12121930

By:

van de Stadt, Stephanie I. W.;
Mooyer, Petra A. W.;
Dijkstra, Inge M. E.;
Dekker, Conny J. M.;
Vats, Divya;
Vera, Moin;
Ruzhnikov, Maura R. Z.;
van Haren, Keith;
Tang, Nelson;
Koop, Klaas;
Willemsen, Michel A.;
Hui, Joannie;
Vaz, Frédéric M.;
Ebberink, Merel S.;
Engelen, Marc;
Kemp, Stephan;
Ferdinandusse, Sacha

Publication type:

Article

A Large Family with p.Arg554His Mutation in ABCD1 : Clinical Features and Genotype/Phenotype Correlation in Female Carriers.

Published in:

Genes, 2021, v. 12, n. 5, p. 775, doi. 10.3390/genes12050775

By:

Campopiano, Rosa;
Femiano, Cinzia;
Chiaravalloti, Maria Antonietta;
Ferese, Rosangela;
Centonze, Diego;
Buttari, Fabio;
Zampatti, Stefania;
Fanelli, Mirco;
Amatori, Stefano;
D'Alessio, Carmelo;
Giardina, Emiliano;
Fornai, Francesco;
Biagioni, Francesca;
Storto, Marianna;
Gambardella, Stefano;
Via, Marc

Publication type:

Article

Comparison of Caregiver-Reported Dietary Intake Methods in Zellweger Spectrum Disorder.

Published in:

Nutrients, 2025, v. 17, n. 6, p. 989, doi. 10.3390/nu17060989

By:

Bose, Mousumi;
von Thun, Nancy L.;
Kerrihard, Adrian L.;
Lopez, Melisa L.;
Donlon, Chelsea I.;
Smolen, Alyssa K.;
Fontes, Nicole P.

Publication type:

Article

Potential of Fatty Acids in Treating Sarcopenia: A Systematic Review.

Published in:

Nutrients, 2023, v. 15, n. 16, p. 3613, doi. 10.3390/nu15163613

By:

Huang, Tao;
Liu, Chaoran;
Cui, Can;
Zhang, Ning;
Cheung, Wing Hoi;
Wong, Ronald Man Yeung

Publication type:

Article

Amplitude-Integrated Electroencephalography in Newborns with Inborn Errors of Metabolism.

Published in:

Neonatology (16617800), 2012, v. 102, n. 3, p. 203, doi. 10.1159/000339567

By:

Olischar, Monika;
Shany, Eilon;
Aygün, Canan;
Azzopardi, Denis;
Hunt, Rod W.;
Toet, Mona C.;
Hamosh, Ada;
de Vries, Linda S.;
Hellström-Westas, Lena;
Theda, Christiane

Publication type:

Article

X-linked adrenoleukodystrophy with olivopontocerebellar atrophy.

Published in:

European Journal of Neurology, 2005, v. 12, n. 11, p. 912, doi. 10.1111/j.1468-1331.2005.01134.x

By:

Vianello, M.;
Manara, R.;
Betterle, C.;
Tavolato, B.;
Mariniello, B.;
Giometto, B.

Publication type:

Article

Long-term effect of bone marrow transplantation in adult-onset adrenoleukodystrophy.

Published in:

European Journal of Neurology, 2005, v. 12, n. 10, p. 807, doi. 10.1111/j.1468-1331.2005.01055.x

By:

Hitomi, T.;
Mezaki, T.;
Tomimoto, H.;
Ikeda, A.;
Shimohama, S.;
Okazaki, T.;
Uchiyama, T.;
Shibasaki, H.

Publication type:

Article

Oxidative Stress in Patients with X-Linked Adrenoleukodystrophy.

Published in:

Cellular & Molecular Neurobiology, 2016, v. 36, n. 4, p. 497, doi. 10.1007/s10571-015-0234-2

By:

Deon, Marion;
Marchetti, Desirèe;
Donida, Bruna;
Wajner, Moacir;
Vargas, Carmen

Publication type:

Article

Identification of the Mitochondrial MSRB2 as a Binding Partner of LG72.

Published in:

Cellular & Molecular Neurobiology, 2014, v. 34, n. 8, p. 1123, doi. 10.1007/s10571-014-0087-0

By:

Otte, David-Marian;
Raskó, Tamás;
Wang, Mengzhe;
Dreiseidler, Michael;
Drews, Eva;
Schrage, Hanna;
Wojtalla, Alexandra;
Höhfeld, Jörg;
Wanker, Erich;
Zimmer, Andreas

Publication type:

Article

X-linked adrenoleukodystrophy diagnosed in three brothers.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2019, v. 25, n. 2, p. 95, doi. 10.5114/pedm.2019.85821

By:

Hetman, Marta;
Jura, Maksym;
Krakowska, Kornelia;
Barg, Ewa

Publication type:

Article

Plasmalogen levels in full-term neonates.

Published in:

Acta Paediatrica, 2009, v. 98, n. 4, p. 640, doi. 10.1111/j.1651-2227.2008.01205.x

By:

Labadaridis, I.;
Moraitou, M.;
Theodoraki, M.;
Triantafyllidis, G.;
Sarafidou, J.;
Michelakakis, H.

Publication type:

Article

BOLILE PEROXIZOMALE LA COPIL.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2010, v. 59, n. 1, p. 16

By:

Popescu, Valeriu;
Zamfirescu, Andrei

Publication type:

Article

Overall intact cognitive function in male X-linked adrenoleukodystrophy adults with normal MRI.

Published in:

2019

By:

Buermans, Noortje J. M. L.;
van den Bosch, Sharon J. G.;
Huffnagel, Irene C.;
Steenweg, Marjan E.;
Engelen, Marc;
Oostrom, Kim J.;
Geurtsen, Gert J.

Publication type:

journal 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

Role of STAT-3 in regulation of hepatic gluconeogenic genes and carbohydrate metabolism in vivo.

Published in:

Nature Medicine, 2004, v. 10, n. 2, p. 168, doi. 10.1038/nm980

By:

Inoue, Hiroshi;
Ogawa, Wataru;
Ozaki, Michitaka;
Haga, Sanae;
Matsumoto, Michihiro;
Furukawa, Kensuke;
Hashimoto, Naoko;
Kido, Yoshiaki;
Mori, Toshiyuki;
Sakaue, Hiroshi;
Teshigawara, Kiyoshi;
Jin, Shiyu;
Iguchi, Haruhisa;
Hiramatsu, Ryuji;
Leroith, Derek;
Takeda, Kiyoshi;
Akira, Shizuo;
Kasuga, Masato

Publication type:

Article

Peroxisomal Enzymes in the Liver of Rats With Experimental Diabetes Mellitus Type 2.

Published in:

Physiological Research, 2014, v. 63, p. S585, doi. 10.33549/physiolres.932918

By:

TURECKÝ, L.;
KUPČOVÁ, V.;
UHLÍKOVÁ, E.;
MOJTO, V.

Publication type:

Article

Generation and Characterization of Human iPSC-Derived Astrocytes with Potential for Modeling X-Linked Adrenoleukodystrophy Phenotypes.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 4, p. 1576, doi. 10.3390/ijms26041576

By:

Kaur, Navtej;
Singh, Jaspreet

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

Challenges Faced by Newborns with Inherited Metabolic Disorders and Their Mothers During Antepartum, Intrapartum, and Postpartum Periods.

Published in:

Fetal & Pediatric Pathology, 2025, v. 44, n. 1, p. 53, doi. 10.1080/15513815.2024.2447082

By:

Koç Yekedüz, Merve;
Yağci, Gözde Nur;
Sürücü Kara, İlknur;
Evgin, Merve;
Kose, Engin;
Eminoğlu, Fatma Tuba

Publication type:

Article

Differential distribution of peroxisomal proteins points to specific roles of peroxisomes in the murine retina.

Published in:

Molecular & Cellular Biochemistry, 2019, v. 456, n. 1/2, p. 53, doi. 10.1007/s11010-018-3489-3

By:

Das, Yannick;
Roose, Nele;
De Groef, Lies;
Fransen, Marc;
Moons, Lieve;
Van Veldhoven, Paul P.;
Baes, Myriam

Publication type:

Article

The peroxisomal ABC transporter family.

Published in:

Pflügers Archiv: European Journal of Physiology, 2007, v. 453, n. 5, p. 719, doi. 10.1007/s00424-006-0142-x

By:

Wanders, Ronald J. A.;
Visser, Wouter F.;
van Roermund, Carlo W. T.;
Kemp, Stephan;
Waterham, Hans R.

Publication type:

Article

The biogenesis protein PEX14 is an optimal marker for the identification and localization of peroxisomes in different cell types, tissues, and species in morphological studies.

Published in:

Histochemistry & Cell Biology, 2013, v. 140, n. 4, p. 423, doi. 10.1007/s00418-013-1133-6

By:

Grant, Phillip;
Ahlemeyer, Barbara;
Karnati, Srikanth;
Berg, Timm;
Stelzig, Ingra;
Nenicu, Anca;
Kuchelmeister, Klaus;
Crane, Denis;
Baumgart-Vogt, Eveline

Publication type:

Article

Localization of mRNAs encoding peroxisomal proteins in cell culture by non-radioactive in situ hybridization. Comparison of rat and human hepatoma cells and their responses to two divergent hypolipidemic drugs.

Published in:

Histochemistry & Cell Biology, 2001, v. 115, n. 6, p. 499, doi. 10.1007/s004180100277

By:

Kovacs, Werner;
Stangl, Herbert;
Völkl, Alfred;
Schad, Arno;
Fahimi, Dariush H.;
Baumgart, Eveline

Publication type:

Article

Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency.

Published in:

Acta Neuropathologica, 2004, v. 108, n. 2, p. 154, doi. 10.1007/s00401-004-0877-4

By:

Schröder, J. M.;
Hackel, V.;
Wanders, R. J. A.;
Göhlich-Ratmann, G.;
Voit, T.

Publication type:

Article

Phenylbulyrate up-regulates the adrenoleukodystrophy-related gene as a nonclassical peroxisome proliferator.

Published in:

Journal of Cell Biology, 2005, v. 169, n. 1, p. 93, doi. 10.1083/jcb.200501036

By:

Gonclcaille, Catherine;
Depreter, Marianne;
Fourcade, Stephane;
Lecca, Maria Rita;
Leclercq, Sabrina;
Martin, Pascal G.P.;
Pineau, Thierry;
Caciepond, Françoise;
ElEtr, Martine;
Bertrand, Nathalie;
Beley, Alain;
Duclos, Sandrine;
De Craemer, Dirk;
Roels, Frank;
Savary, Stéphane;
Bugaut, Maurice

Publication type:

Article

Ethical Issues Encountered within the Context of an Adrenoleukodystrophy Case.

Published in:

Gazi Medical Journal, 2020, v. 31, n. 2, p. 219, doi. 10.12996/gmj.2020.59

By:

Karabulut, Seyhan Demir;
Yıldırım, Rıfat Vedat;
Çelik, Zerrin Yılmaz

Publication type:

Article

Allogeneic hematopoietic stem cell transplantation in patients with childhood cerebral adrenoleukodystrophy: A single‐center experience "Better prognosis in earlier stage".

Published in:

Pediatric Transplantation, 2021, v. 25, n. 4, p. 1, doi. 10.1111/petr.14015

By:

Yalcin, Koray;
Çelen, Suna S.;
Daloglu, Hayriye;
Demir, Mustafa Kemal;
Öztürkmen, Seda;
Pasayev, Dayanat;
Zhumatayev, Suleimen;
Uygun, Vedat;
Hazar, Volkan;
Karasu, Gulsun;
Yesilipek, Akif

Publication type:

Article

Complexity of pre-emptive liver transplantation in children with primary hyperoxaluria type 1.

Published in:

2016

By:

Squires, James;
Nguyen, Christina

Publication type:

Editorial

Successful cord blood transplantation using a reduced-intensity conditioning regimen for advanced childhood-onset cerebral adrenoleukodystrophy.

Published in:

Pediatric Transplantation, 2011, v. 15, n. 6, p. E116, doi. 10.1111/j.1399-3046.2009.01188.x

By:

Awaya, Tomonari;
Kato, Takeo;
Niwa, Akira;
Hiramatsu, Hidefumi;
Umeda, Katsutsugu;
Watanabe, Ken-ichiro;
Shibata, Minoru;
Yamanaka, Yasunari;
Maruya, Etsuko;
Saji, Hiroh;
Nakahata, Tatsutoshi;
Adachi, Souichi

Publication type:

Article

Glycoprotein nonmetastatic melanoma protein B (GNMPB) as a novel biomarker for cerebral adrenoleukodystrophy.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-11552-7

By:

Taghizadeh, Leyla A.;
King, Carina J.;
Nascene, David R.;
Gupta, Ashish O.;
Orchard, Paul J.;
Higgins, LeeAnn;
Markowski, Todd W.;
Nolan, Erin E.;
Furcich, Justin W.;
Lund, Troy C.

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

Reversal of expression of 15-lipoxygenase-1 to cyclooxygenase-2 is associated with development of colonic cancer.

Published in:

Histopathology, 2007, v. 51, n. 4, p. 520, doi. 10.1111/j.1365-2559.2007.02799.x

By:

Yuri, M.;
Sasahira, T.;
Nakai, K.;
Ishimaru, S.;
Ohmori, H.;
Kuniyasu, H.

Publication type:

Article

Antrodia camphorata Increases Insulin Secretion and Protects from Apoptosis in MIN6 Cells.

Published in:

Frontiers in Pharmacology, 2016, p. 1, doi. 10.3389/fphar.2016.00067

By:

Chi Teng Vong;
Hisa Hui Ling Tseng;
Yiu Wa Kwan;
Simon Ming-Yuen Lee;
Maggie Pui Man Hoi

Publication type:

Article

Activation of sirtuin 1 as therapy for the peroxisomal disease adrenoleukodystrophy.

Published in:

Cell Death & Differentiation, 2015, v. 22, n. 11, p. 1742, doi. 10.1038/cdd.2015.20

By:

Morató, L;
Ruiz, M;
Boada, J;
Calingasan, N Y;
Galino, J;
Guilera, C;
Jové, M;
Naudí, A;
Ferrer, I;
Pamplona, R;
Serrano, M;
Portero-Otín, M;
Beal, M F;
Fourcade, S;
Pujol, A

Publication type:

Article

SKIN HYPERPIGMENTATION: FROM ENDOCRINE DYSFUNCTION TO PEROXISOMAL DISEASE.

Published in:

2018

By:

Ferreira, Helena;
Ferreira, Carla;
Correia, Filipa;
Lobo, Ana;
Magalhaes, Catarina;
Meireles, Carla

Publication type:

Case Study

SKIN HYPERPIGMENTATION: FROM ENDOCRINE DYSFUNCTION TO PEROXISOMAL DISEASE.

Published in:

Pediatric Oncall Journal, 2017, v. 14, n. 3, p. 68, doi. 10.7199/ped.oncall.2017.24

By:

Ferreira, Helena;
Ferreira, Carla;
Correia, Filipa;
Lobo, Ana;
Magalhaes, Catarina;
Meireles, Carla

Publication type:

Article