Results 1 to 10 of about 1,135,071 (192)

Genetic analysis of the X-linked adrenoleukodystrophy gene ABCD1 in Drosophila uncovers a conserved phenotype [PDF]

Communications Biology
X-linked adrenoleukodystrophy (X-ALD) is a progressive neurodegenerative disorder caused by a loss-of-function (LOF) mutation in the ATP-binding cassette subfamily D member 1 (ABCD1) gene, leading to the accumulation of very long-chain fatty acids ...
Joshua Manor, Sharayu V. Jangam, Hyung-lok Chung, Pranjali Bhagwat, Jonathan C. Andrews, Hillary Chester, Shu Kondo, Saurabh Srivastav, Juan Botas, Ann B. Moser, Suzette M. Huguenin, Michael F. Wangler   +11 more
doaj   +2 more sources

Organelle Crosstalk and Metabolic Reprogramming in Idiopathic Pulmonary Fibrosis: Mechanisms and Therapeutic Implications. [PDF]

Cell Biochem Funct
ABSTRACT Idiopathic pulmonary fibrosis (IPF) is a fatal interstitial lung disease of unknown cause, marked by excessive deposition of extracellular matrix (ECM) components such as collagen. This pathological accumulation results in progressive destruction of the lung architecture and ultimately leads to respiratory failure.
Zhang Y, Teng L, Gong L, Fu Y, Qian M.
europepmc   +2 more sources

Successful Treatment of Severe Hepatopulmonary Syndrome as a Rare Complication of Zellweger Spectrum Disorder [PDF]

JIMD Reports
We report the case of an 11‐year‐old girl who developed hepatopulmonary syndrome (HPS) as a rare complication of Zellweger spectrum disorder and was successfully treated with liver transplantation.
Riya Mary Tharakan, Sanjay Rajwal, Bernd C. Schwahn   +2 more
doaj   +2 more sources

Peroxisomes as emerging clinical targets in neuroinflammatory diseases [PDF]

Frontiers in Molecular Neuroscience
Peroxisomes are membrane-bounded organelles that contribute to a range of physiological functions in eukaryotic cells. In the central nervous system (CNS), peroxisomes are implicated in several vital homeostatic functions including, but not limited to ...
Andrej Roczkowsky, Richard A. Rachubinski, Tom C. Hobman, Tom C. Hobman, Christopher Power, Christopher Power   +5 more
doaj   +2 more sources

The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models [PDF]

Frontiers in Molecular Neuroscience
The absence or dysfunction of the peroxisomal membrane protein Acyl-CoA Binding Domain-Containing Protein 5 (ACBD5) is the cause of the most recently discovered peroxisomal disorder “Retinal Dystrophy with Leukodystrophy” (RDLKD).
Michael L. Dawes, Jim P. Haberlander, Markus Islinger, Michael Schrader   +3 more
doaj   +2 more sources

Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family [PDF]

The Application of Clinical Genetics
Ingrid Tatyana Bernal-Bonilla,1 Juan Sebastian Arias-Florez,1 Sandra Ximena Ramirez,2 Bibiana Alejandra Bayona-Gomez,3 Lina Castro-Castillo,3 Valeria Correa-Martinez,4 Yasmín Sanchez-Gomez,5 Natalia Santiago-Tovar,6 Cristian Camilo Gaviria-Sabogal,6 Nora
Bernal-Bonilla IT, Arias-Florez JS, Ramirez SX, Bayona-Gomez BA, Castro-Castillo L, Correa-Martinez V, Sanchez-Gomez Y, Santiago-Tovar N, Gaviria-Sabogal CC, Contreras Bravo NC, Cabrera R, Morel A, Fonseca-Mendoza DJ, Restrepo CM   +13 more
doaj   +2 more sources

Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients

Orphanet Journal of Rare Diseases, 2023
Background The peroxisome is a ubiquitous single membrane-enclosed organelle with an important metabolic role. Peroxisomal disorders represent a class of medical conditions caused by deficiencies in peroxisome function and are segmented into enzyme-and ...
Zhixing Zhu, Georgi Z. Genchev, Yanmin Wang, Wei Ji, Xiaofen Zhang, Hui Lu, Sira Sriswasdi, Guoli Tian   +7 more
doaj   +1 more source

Mitochondrial stress in advanced fibrosis and cirrhosis associated with chronic hepatitis B, chronic hepatitis C, or nonalcoholic steatohepatitis

Hepatology, EarlyView., 2022
Adaptive mitochondrial mechanisms allow mitochondrial resilience and prevent the worsening of fibrosis, while deregulation of these mechanisms promotes the progression from no/minimal‐mild (F0‐F2) fibrosis to advanced fibrosis and cirrhosis (F3‐F4). Abstract Background and Aims Hepatitis B virus (HBV) infection causes oxidative stress (OS) and alters ...
Dimitri Loureiro, Issam Tout, Stéphanie Narguet, Cheikh Mohamed Bed, Morgane Roinard, Ahmad Sleiman, Nathalie Boyer, Nathalie Pons‐Kerjean, Corinne Castelnau, Nathalie Giuly, Dorothy Tonui, Vassili Soumelis, Jamel El Benna, Patrick Soussan, Richard Moreau, Valérie Paradis, Abdellah Mansouri, Tarik Asselah   +17 more
wiley   +1 more source

Uncombable hair in a case of Zellweger syndrome – A new association

Indian Dermatology Online Journal, 2023
Zellweger syndrome (ZS) is a rare autosomal recessive, peroxisomal biogenesis disorder (PBD) that occurs due to a mutation in any of the thirteen peroxin (PEX) genes.
Yatham Jahnavi, R G Sharada, Afthab Jameela Wahab   +2 more
doaj   +1 more source

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

International Journal of Neonatal Screening, 2022
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It results from pathogenic variants in ABCD1, which encodes the peroxisomal very-long-chain fatty acid transporter, causing a spectrum of neurodegenerative phenotypes.
Jessica R. C. Priestley, Laura A. Adang, Sarah Drewes Williams, Uta Lichter-Konecki, Caitlin Menello, Nicole M. Engelhardt, James C. DiPerna, Brenda DiBoscio, Rebecca C. Ahrens-Nicklas, Andrew C. Edmondson, Francis Jeshira Reynoso Santos, Can Ficicioglu   +11 more
doaj   +1 more source