Results 71 to 80 of about 14,971 (151)

ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy

The Application of Clinical Genetics, 2022
Alyssa M Volmrich,1 Lauren M Cuénant,1 Irman Forghani,2 Sharon L Hsieh,3 Lauren T Shapiro1 1Department of Physical Medicine & Rehabilitation, University of Miami Miller School of Medicine, Miami, FL, USA; 2Department of Human Genetics, University of ...
Volmrich AM, Cuénant LM, Forghani I, Hsieh SL, Shapiro LT   +4 more
doaj  

Potent Liver‐Tropic mRNA Lipid Nanoparticles: ApoE‐Mediated Delivery Through a Low‐Density Lipoprotein Receptor Independent Uptake Mechanism

Advanced Materials, Volume 38, Issue 22, 17 April 2026.
Helper and ionizable lipids play a crucial role in determining ApoE binding and subsequent liver tropism and LDLR‐mediated uptake. Ionizable lipids primarily govern the LDLR‐independent uptake pathway. This complementary interplay between lipid components ultimately governs LNP delivery performance and therapeutic efficacy in the liver.
Ashish Sarode, Christian Ortiz, Tadeh Derstepanian, Natalia Vargas‐Montoya, Priyal Patel, Nikita Khadse, Saikat Manna, Ryan Landis, Joseph Skaleski, Lianne Boeglin, Hongfeng Deng, Anusha Dias, Hong Wang, Debora Barreiros Petropolis, Barak Yahalom, Shrirang Karve, Frank DeRosa   +16 more
wiley   +1 more source

A case of adrenoleukodystrophy presenting with manic symptoms in a patient on steroids for Addison's disease

Indian Journal of Psychiatry, 2016
Adrenoleukodystrophy (ALD) is an X-linked disorder with diverse clinical presentations. A 30-year-old male, previously diagnosed with Addison's disease, on steroid supplementation for 18 years, presented to us with manic symptoms for 4 years.
K. S. Jyothi, Cyriac George, K. S. Shaji
doaj   +1 more source

Small Molecule‐Based Conditional Gene Regulation: Advances and Applications

Chemistry–Methods, Volume 6, Issue 4, April 2026.
The precise, temporal, and reversible control of gene expression using small molecule ligands is crucial for understanding complex cellular functions and is rapidly advancing the field of synthetic biology. Small molecule‐mediated conditional gene regulation has widespread applications, including bio‐manufacturing, cellular reprogramming, gene therapy,
Mohd Afaque Ansari, Riddhima Sharma, Priyanka Swami, Ambadas B. Rode   +3 more
wiley   +1 more source

Prognosis of X-Linked Adrenoleukodystrophy

, 2005
The natural history of X-linked adrenoleukodystrophy (ALD) was determined by questionnaire survey in a nation-wide retrospective study of 145 patients at Gifu University School of Medicine, and the Ministry of Health, Labor and Welfare ...
J Gordon Millichap
core   +1 more source

Adrenoleukodystrophy: Hair studies

, 1995
Fourteen young patients affected by adrenoleukodystrophy were the subjects of this study aimed at evaluating their hair. Hair was thin and light upon clinical examination and several structural and biochemical anomalies were detected during all ...
D. Barra Bossa, CALVIERI, Stefano, GIUSTINI, Sandra, B. Amorosi, M. Oliva, ROSSI, Alfredo   +5 more
core  

X-linked adrenoleukodystrophy in Norway Clinical and epidemiological aspects

, 2016
In this thesis for the degree of PhD, cand.med. Morten Andreas Horn and his coworkers have surveyed the Norwegian population of patients with X-linked adrenoleukodystrophy.
Horn, Morten Andreas
core   +1 more source

Targeting of the human adrenoleukodystrophy protein to the peroxisomal membrane by an internal region containing a highly conserved motif

, 2020
In this study we addressed the targeting requirements of peroxisomal ABC transporters, in particular the human adrenoleukodystrophy protein. This membrane protein is defective or missing in X-linked adrenoleukodystrophy, a neurodegenerative disorder ...
Mayerhofer, PU, Roscher, AA, Landgraf, P, Holzinger, A, Polanetz, R   +4 more
core   +1 more source

Propofol infusion syndrome or adrenoleukodystrophy?

, 2013
Following a propofol anesthetic, a 5-year-old girl with lower extremity spasticity seized and developed hypertriglyceridemia, hyperkalemia, and metabolic acidosis.
Karaman, Yucel, Karaarslan, Utku, Agin, Hasan, Goktay, Aylin   +3 more
core   +1 more source

Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy

, 2006
A combined genotype of polymorphisms of methionine metabolism has been associated with CNS demyelination in methotrexate-treated patients. Within a sample of 86 patients with X-linked adrenoleukodystrophy, this genotype was overrepresented in a subgroup ...
Kemp, S., Klockgether, T., Wullner, U., Kemp, S (Stephan), Kohler, W, Gartner, J, Linnebank, M, Schmidt, S, Schmidt, S., Fliessbach, K., Kleijer, WJ (Wim), Klockgether, T, Sokolowski, P, Gärtner, Jutta, van der Sterre, M. L. T., Kohler, W., Semmler, A, Wanders, Ronald J. A., Wanders, RJA, Linnebank, M., Sterre, Marianne, Fliessbach, K, Wullner, U, Semmler, A., Schlegel, U, Kleijer, W. J., Sokolowski, P., Schlegel, U.   +27 more
core   +1 more source