Results 71 to 80 of about 18,427 (209)

Molecular Probes for Tracking Reactive Oxygen Species at the Organelle Interface

Analysis &Sensing, Volume 6, Issue 3, May 2026.
This perspective charts the frontier of visualizing compartmentalized redox signaling across mitochondria, the ER, lysosomes, and the underexplored peroxisome. It discusses evolving molecular probe designs, the integration of multiplexed imaging, and the specific engineering challenges for tracking ROS at organelle interfaces.
Daniela Ceballos‐Ávila, Arturo Jiménez‐Sánchez   +1 more
wiley   +1 more source

Evaluation of Neurofilament Light Chain as a Biomarker of Neurodegeneration in X-Linked Childhood Cerebral Adrenoleukodystrophy

Cells, 2022
Cerebral adrenoleukodystrophy (CALD) is a devastating, demyelinating neuroinflammatory manifestation found in up to 40% of young males with an inherited mutation in ABCD1, the causative gene in adrenoleukodystrophy.
Hongge Wang, Matthew D. Davison, Martin L. Kramer, Weiliang Qiu, Tatiana Gladysheva, Ruby M. S. Chiang, Can Kayatekin, David R. Nascene, Leyla A. Taghizadeh, Carina J. King, Erin E. Nolan, Ashish O. Gupta, Paul J. Orchard, Troy C. Lund   +13 more
doaj   +1 more source

A Chinese X‐Linked Adrenoleukodystrophy Patient With Atypical Clinical Symptoms Contained an Undefined ABCD1 Mutation—A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT X‐linked adrenoleukodystrophy (X‐ALD) is a genetic peroxisome disorder linked to ABCD1 mutation, characterized by rapid and complex clinical symptoms. We here report a case of X‐ALD manifesting solely as dysarthria, associated with an undefined mutation in the ABCD1 gene, underscoring the necessity of atypical clinical symptoms in X‐ALD ...
Fu‐Qing Zhang, Zhuoran Zhang, Dongliang Wang, Ying Yang, Xin Li   +4 more
wiley   +1 more source

Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage [PDF]

, 2017
ATP-binding cassette (ABC) transporters facilitate unidirectional translocation of chemically diverse substances, ranging from peptides to lipids, across cell or organelle membranes.
Broccoli, Vania, Callyzot, Noëlle, Ferrer, Isidre, Hindelang, Colette, Kapfhammer, Josef P., Kemp, Stephan, Mandel, Jean Louis, Mooyer, Petra, Pujol, Aurora, Selhorst, Jacqueline, Troffer-Charlier, Nathalie, Vreken, Peter, Wanders, Ronald J.A.   +12 more
core  

Clinical phenotype and genetic characteristics of five patients with adrenomyeloneuropathy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2022
Objective To report 5 patients with adrenomyeloneuropathy (AMN), and to summarize the clinical phenotype and gene mutation characteristics in combination with literature and mutation database.
LIU Xiao⁃li , ZHANG Bin , ZHAN Fei⁃xia , CAO Li   +3 more
doaj   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Testosterone-induced effects on lipids and inflammation [PDF]

, 2013
Chronic pain has to be considered in all respects a debilitating disease and 10-20% of the world's adult population is affected by this disease. In the most general terms, pain is symptomatic of some form of dysfunction and (often) the resulting ...
Aloisi, Anna Maria, Bechi, Nicoletta, Muscoli, Carolina, Petroni, Anna, Vodo, Stella   +4 more
core   +4 more sources

Psychological Impact of Presymptomatic X-Linked ALD Diagnosis and Surveillance: A Small Qualitative Study of Patient and Parent Experiences

International Journal of Neonatal Screening
X-linked adrenoleukodystrophy (ALD) is a rare metabolic disorder. Symptoms range from cerebral demyelination (cALD) to adrenal insufficiency and slowly progressive myeloneuropathy.
Cecilie S. Videbæk, Sabine W. Grønborg, Allan M. Lund, Mette L. Olesen   +3 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Indications for pediatric hematopoietic stem cell transplantation: consensus presented at the First Meeting on Brazilian Hematopoietic Stem Cell Transplantation Guidelines - Brazilian Society of Bone Marrow Transplantation, Rio de Janeiro, 2009 [PDF]

, 2010
The Brazilian Bone Marrow Transplant Society (SBTMO) held its First Meeting on Bone Marrow Transplant Guidelines in 2009. A working group of hematologists and oncologists with experience in pediatrics was formed to review evidence-based indications for ...
Bonfim, Carmem Maria S., Castro Jr, Claudio G., Daudt, Liane E., Ginani, Valéria C., Gouveia, Roseane Vasconcelos, Mauad, Marcos, Seber, Adriana   +6 more
core   +1 more source