Works matching DE "PEROXISOMAL disorders"

Results: 294

The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models.

Published in:

2025

By:

Dawes, Michael L.;
Haberlander, Jim P.;
Islinger, Markus;
Schrader, Michael

Publication type:

Abstract

Peroxisomal Alterations in Prostate Cancer: Metabolic Shifts and Clinical Relevance.

Published in:

Cancers, 2025, v. 17, n. 13, p. 2243, doi. 10.3390/cancers17132243

By:

Hussein, Mohamed A. F.;
Lismont, Celien;
Li, Hongli;
Chai, Ruizhi;
Claessens, Frank;
Fransen, Marc

Publication type:

Article

Peroxisome dynamics and inter-organelle interactions in neuronal health and disease.

Published in:

Frontiers in Molecular Neuroscience, 2025, p. 1, doi. 10.3389/fnmol.2025.1603632

By:

Carmichael, Ruth E.

Publication type:

Article

Perceptions and Experiences of Families of Infants Diagnosed with X-Linked Adrenoleukodystrophy (X-ALD) via Newborn Screening in Georgia and Kentucky.

Published in:

Journal of Primary Care & Community Health, 2025, p. 1, doi. 10.1177/21501319251337182

By:

Iyer, Sharanya;
Kenneson, Aileen;
Ali, Nadia;
Gunn, Gwen

Publication type:

Article

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

Mevalonate kinase deficiency in two sisters with therapeutic response to anakinra: case report and review of the literature.

Published in:

2014

By:

Campanilho-Marques, Raquel;
Brogan, Paul

Publication type:

Case Study

Conjugated linoleic acids: why the discrepancy between animal and human studies?

Published in:

Nutrition Reviews, 2008, v. 66, n. 7, p. 415, doi. 10.1111/j.1753-4887.2008.00051.x

By:

Plourde, Mélanie;
Jew, Stephanie;
Cunnane, Stephen C.;
Jones, Peter J. H.

Publication type:

Article

Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases.

Published in:

Springer Seminars in Immunopathology, 2004, v. 26, n. 1/2, p. 119, doi. 10.1007/s00281-004-0166-2

By:

Krivit, William

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

Analysis of the role of COMATOSE and peroxisomal beta-oxidation in the determination of germination potential in Arabidopsis.

Published in:

Journal of Experimental Botany, 2006, v. 57, n. 11, p. 2805, doi. 10.1093/jxb/erl045

By:

Footitt, Steven;
Marquez, Julietta;
Schmuths, Heike;
Baker, Alison;
Theodoulou, Frederica L.;
Holdsworth, Michael

Publication type:

Article

Metabolic Seizures.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.640371

By:

Almannai, Mohammed;
Al Mahmoud, Rabah A.;
Mekki, Mohammed;
El-Hattab, Ayman W.

Publication type:

Article

Iguratimod prevents ovariectomy-induced bone loss and suppresses osteoclastogenesis via inhibition of peroxisome proliferator-activated receptor-γ.

Published in:

Molecular Medicine Reports, 2017, v. 16, n. 6, p. 8200, doi. 10.3892/mmr.2017.7648

By:

YING-XING WU;
YUE SUN;
YA-PING YE;
PENG ZHANG;
JIA-CHAO GUO;
JUN-MING HUANG;
XING-ZHI JING;
WEI XIANG;
SHI-YING YU;
FENG-JING GUO

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

Impaired peroxisomal beta-oxidation in microglia triggers oxidative stress and impacts neurons and oligodendrocytes.

Published in:

Frontiers in Molecular Neuroscience, 2025, p. 1, doi. 10.3389/fnmol.2025.1542938

By:

Tawbeh, Ali;
Gondcaille, Catherine;
Saih, Fatima-Ezzahra;
Raas, Quentin;
Loichot, Damien;
Hamon, Yannick;
Keime, Céline;
Benani, Alexandre;
Di Cara, Francesca;
Cherkaoui-Malki, Mustapha;
Andreoletti, Pierre;
Savary, Stéphane

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

Bile Acid Synthetic Defects and Liver Disease: A Comprehensive Review BAS Defects and Liver Disease.

Published in:

Pediatric & Developmental Pathology, 2004, v. 7, n. 4, p. 315, doi. 10.1007/s10024-002-1201-8

By:

Bove, Kevin E.;
Heubi, James E.;
Balistreri, William F.;
Setchell, Kenneth D. R.

Publication type:

Article

The respiratory chain inhibitor rotenone affects peroxisomal dynamics via its microtubule-destabilising activity.

Published in:

Histochemistry & Cell Biology, 2017, v. 148, n. 3, p. 331, doi. 10.1007/s00418-017-1577-1

By:

Passmore, Josiah;
Pinho, Sonia;
Gomez-Lazaro, Maria;
Schrader, Michael

Publication type:

Article

Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line.

Published in:

Histochemistry & Cell Biology, 2017, v. 147, n. 4, p. 537, doi. 10.1007/s00418-016-1532-6

By:

Klouwer, Femke;
Koster, Janet;
Ferdinandusse, Sacha;
Waterham, Hans

Publication type:

Article

Microporation is an efficient method for siRNA-induced knockdown of PEX5 in HepG2 cells: evaluation of the transfection efficiency, the PEX5 mRNA and protein levels and induction of peroxisomal deficiency.

Published in:

Histochemistry & Cell Biology, 2014, v. 142, n. 5, p. 577, doi. 10.1007/s00418-014-1254-6

By:

Ahlemeyer, Barbara;
Vogt, Julia-Franziska;
Michel, Vera;
Hahn-Kohlberger, Petra;
Baumgart-Vogt, Eveline

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

Anästhesie bei einem Kind mit Verdacht auf eine peroxisomale Stoffwechselerkrankung.

Published in:

2017

By:

Englbrecht, J.;
Maas, M.;
Englbrecht, J S

Publication type:

journal 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

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

A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.

Published in:

Neurological Sciences, 2021, v. 42, n. 7, p. 2737, doi. 10.1007/s10072-020-04843-2

By:

Zaki, Maha S.;
Issa, Mahmoud Y.;
Thomas, Manal M.;
Elbendary, Hasnaa M.;
Rafat, Karima;
Al Menabawy, Nihal M.;
Selim, Laila A.;
Ismail, Samira;
Abdel-Salam, Ghada M.;
Gleeson, Joseph G.

Publication type:

Article

Decreased liver peroxisomal β-oxidation accompanied by changes in brain fatty acid composition in aged rats.

Published in:

Neurological Sciences, 2014, v. 35, n. 2, p. 289, doi. 10.1007/s10072-013-1509-3

By:

Yang, Lei;
Zhang, Yu;
Wang, Shasha;
Zhang, Wei;
Shi, Ruling

Publication type:

Article

THE ULTRASTRUCTURE AND ENZYME CONTENT OF RAT KIDNEY PEROXISOMES.

Published in:

Annals of the Romanian Society for Cell Biology, 2009, v. 14, n. 2, p. 47

By:

Lighezan, Rodica;
Alexa, Aurora;
Baderca, Flavia;
Bonte, Diana;
Haivas, Carmen;
Lighezan, D. F.;
Muntean, Ioana;
Raica, M.;
Gorgas, Karin

Publication type:

Article

Clinical characteristics and phenotype distribution in 10 Chinese patients with X-linked adrenoleukodystrophy.

Published in:

Experimental & Therapeutic Medicine, 2019, v. 18, n. 3, p. 1945, doi. 10.3892/etm.2019.7804

By:

Jia, Ming-Rui;
Wu, Wen-Zhen;
Li, Chuan-Ming;
Cai, Xiao-Hui;
Zhang, Lin;
Yan, Fang;
Zhu, Chan;
Gu, Ming-Hong

Publication type:

Article

Peroxisome proliferator-activated receptor gamma in human prostate carcinoma.

Published in:

Pathology International, 2009, v. 59, n. 5, p. 288, doi. 10.1111/j.1440-1827.2009.02367.x

By:

Nakamura, Yasuhiro;
Suzuki, Takashi;
Sugawara, Akira;
Arai, Yoichi;
Sasano, Hironobu

Publication type:

Article

Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review.

Published in:

Neuropathology, 2016, v. 36, n. 1, p. 64, doi. 10.1111/neup.12230

By:

Ogaki, Kotaro;
Koga, Shunsuke;
Aoki, Naoya;
Lin, Wenlang;
Suzuki, Kinuko;
Ross, Owen A.;
Dickson, Dennis W.

Publication type:

Article

Modelling Peroxisomal Disorders in Zebrafish.

Published in:

Cells (2073-4409), 2025, v. 14, n. 2, p. 147, doi. 10.3390/cells14020147

By:

Jiang, Chenxing S.;
Schrader, Michael

Publication type:

Article

Role and Function of Peroxisomes in Neuroinflammation.

Published in:

Cells (2073-4409), 2024, v. 13, n. 19, p. 1655, doi. 10.3390/cells13191655

By:

Sarkar, Chinmoy;
Lipinski, Marta M.

Publication type:

Article

Loss of Pex1 in Inner Ear Hair Cells Contributes to Cochlear Synaptopathy and Hearing Loss.

Published in:

Cells (2073-4409), 2022, v. 11, n. 24, p. 3982, doi. 10.3390/cells11243982

By:

Mauriac, Stephanie A.;
Peineau, Thibault;
Zuberi, Aamir;
Lutz, Cathleen;
Géléoc, Gwénaëlle S. G.

Publication type:

Article

Cell Type-Selective Loss of Peroxisomal β-Oxidation Impairs Bipolar Cell but Not Photoreceptor Survival in the Retina.

Published in:

Cells (2073-4409), 2022, v. 11, n. 1, p. 161, doi. 10.3390/cells11010161

By:

Swinkels, Daniëlle;
Das, Yannick;
Kocherlakota, Sai;
Vinckier, Stefan;
Wever, Eric;
van Kampen, Antoine H.C.;
Vaz, Frédéric M.;
Baes, Myriam

Publication type:

Article

A peroxisomal carrier delivers NAD<sup>+</sup> and contributes to optimal fatty acid degradation during storage oil mobilization.

Published in:

Plant Journal, 2012, v. 69, n. 1, p. 1, doi. 10.1111/j.1365-313X.2011.04775.x

By:

Bernhardt, Kristin;
Wilkinson, Sabrina;
Weber, Andreas P. M.;
Linka, Nicole

Publication type:

Article

A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 °C.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 7, p. 599, doi. 10.1007/s10038-007-0157-y

By:

Zeharia, Avraham;
Ebberink, Merel S.;
Wanders, Ronald J. A.;
Waterham, Hans R.;
Gutman, Alisa;
Nissenkorn, Andreea;
Korman, Stanley H.

Publication type:

Article

Probing substrate-induced conformational alterations in adrenoleukodystrophy protein by proteolysis.

Published in:

Journal of Human Genetics, 2005, v. 50, n. 2, p. 99, doi. 10.1007/s10038-004-0226-4

By:

Guimar&atild;es, Carla P.;
Sá-Miranda, Clara;
Azevedo, Jorge E.

Publication type:

Article

The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 5, p. 273, doi. 10.1007/s100380170078

By:

Matsumoto, N.;
Tamura, S.;
Moser, A.;
Moser, H. W.;
Braverman, N.;
Suzuki, Y.;
Shimozawa, N.;
Kondo, N.;
Fujiki, Y.

Publication type:

Article

Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations.

Published in:

2016

By:

Gunduz, Mehmet;
Unal, Ozlem

Publication type:

Case Study

Insights Into the Peroxisomal Protein Inventory of Zebrafish.

Published in:

Frontiers in Physiology, 2022, v. 13, p. 1, doi. 10.3389/fphys.2022.822509

By:

Kamoshita, Maki;
Kumar, Rechal;
Anteghini, Marco;
Kunze, Markus;
Islinger, Markus;
Martins dos Santos, Vítor;
Schrader, Michael

Publication type:

Article

Acute Late-Onset Cirrhosis in Zellweger Spectrum Disorder.

Published in:

2023

By:

Hsu, Mark;
Subhash, Amith

Publication type:

Case Study

A rare case of fatty acyl‐CoA reductase 1 deficiency in an Indian infant manifesting rhizomelic chondrodystrophy phenotype.

Published in:

Clinical Genetics, 2021, v. 99, n. 5, p. 744, doi. 10.1111/cge.13934

By:

Radha Rama Devi, Akella;
Naushad, Shaik Mohammad;
Jain, Romit;
Lingappa, Lokesh

Publication type:

Article

The many faces of peroxisomal disorders: Lessons from a large Arab cohort.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 310, doi. 10.1111/cge.13481

By:

Alshenaifi, Jumanah;
Ewida, Nour;
Anazi, Shams;
Shamseldin, Hanan E.;
Patel, Nisha;
Maddirevula, Sateesh;
Al‐Sheddi, Tarfa;
Alomar, Rana;
Alobeid, Eman;
Ibrahim, Niema;
Hashem, Mais;
Abdulwahab, Firdous;
Jacob, Minnie;
Alhashem, Amal;
Alzaidan, Hamad I.;
Seidahmed, Mohammed Z.;
Alhashemi, Nadia;
Rawashdeh, Rifaat;
Eyaid, Wafaa;
Al‐Hassnan, Zuhair N.

Publication type:

Article

A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 343, doi. 10.1111/cge.12170

By:

Fedick, A.;
Jalas, C.;
Treff, N.R.

Publication type:

Article

Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders.

Published in:

PLoS ONE, 2020, v. 15, n. 9, p. 1, doi. 10.1371/journal.pone.0238796

By:

Stradomska, Teresa Joanna;
Syczewska, Małgorzata;
Jamroz, Ewa;
Pleskaczyńska, Agata;
Kruczek, Piotr;
Ciara, Elżbieta;
Tylki-Szymanska, Anna

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