Results 61 to 70 of about 28,047,610 (162)

Vitamin E and Niemann–Pick Disease Type C [PDF]

, 2015
How to Cite this Article: Rezayi AR. Vitamin E and Niemann–Pick Disease Type C. Iran J Child Neurol. 2015 Autumn;9:4(Suppl.1): 23.Pls see Pdf.
REZAYI, Alireza
core   +1 more source

Malaria mosquito antimicrobial defence requires immunity and detoxification gene regulation by Lola

Insect Molecular Biology, Volume 35, Issue 5, Page 576-593, October 2026.
Malaria mosquito antimicrobial defence requires upregulation of lola. Attenuation of lola in the midgut of Anopheles albimanus mosquitoes inhibits the upregulation of immunity genes induced by challenge. Putative target genes of the Lola transcription factor were revealed by lola attenuation, including Cecropin‐C, Draper, PPAF2, Clip‐domain serine ...
Heidi Espadas‐Álvarez, Verónica Valverde‐Garduño   +1 more
wiley   +1 more source

New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat

, 2009
James E Wraith, Jackie ImrieWillink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Manchester, UKAbstract: Niemann-Pick disease type C (NP-C) is an autosomal recessive disorder characterized by progressive ...
Jackie Imrie, James E Wraith, Imrie, Jackie, Wraith, James E.   +3 more
core   +1 more source

Reciprocal control of viral infection and phosphoinositide dynamics

FEBS Letters, Volume 600, Issue 17, Page 2526-2546, September 2026.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source

Metabolic Memory in Cardiovascular Disease: Encoding, Propagation, and Therapeutic Targeting

Advanced Science, Volume 13, Issue 54, 28 September 2026.
Cardiovascular risk often persists after metabolic abnormalities are corrected. This conceptual Review frames such persistence as metabolic memory, encoded through a narrowing therapeutic window from reversible marks to irreversible damage, with continuous input from peripheral organs.
Cheng Cheng, Minghui Tang, Zhaobo Zhang, Ruoyi Qu, Jianfei Pei, Tian Liu, Siyao Qu, Shilong You, Shenshen Cui, Wenke Wang, Rui Zhao, Yingxian Sun, Naijin Zhang   +12 more
wiley   +1 more source

ENT1 inhibition links oligodendrocyte lipid metabolism to connectivity in tauopathy

Alzheimer's &Dementia, Volume 22, Issue 9, September 2026.
Abstract INTRODUCTION Metabolic dysfunction, altered adenosine signaling, and white matter abnormalities are implicated in tauopathies, but their relationship to network disconnection remains unclear. Myelinating oligodendrocytes may represent a metabolically vulnerable hub linking these processes to circuit dysfunction.
Ching‐Pang Chang, Ching‐Wen Chang, Ching‐Wen Wu, Jian Jing Siew, David Blum, Lee‐Way Jin, You‐Yin Chen, Yijuang Chern   +7 more
wiley   +1 more source

The Case for Master Protocols for Rare Neurological Diseases

Annals of Neurology, Volume 100, Issue 3, Page 477-486, September 2026.
Master protocol trials allow for simultaneous multiple hypothesis testing within a common framework and might be applicable for rare diseases. In May 2025, the Network for Excellence in Neuroscience Clinical Trials convened a multistakeholder conference to discuss master protocol trials in rare neurological disorders.
Jennifer Vermilion, Sabrina Paganoni, Scott R. Plotkin, Melanie Quintana, Sara B. Calvert, Ineka T. Whiteman, Raymond Y. Wang, Nadia Moore, Erika F. Augustine   +8 more
wiley   +1 more source

Consensus clinical management guidelines for Niemann-Pick disease type C

Orphanet Journal of Rare Diseases, 2018
Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the ...
Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J. Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A. Jones, Daniel Ory, Bruno Bembi, Marc Patterson, on behalf of the International Niemann-Pick Disease Registry (INPDR)   +25 more
doaj   +1 more source

A multiplex interactome of Ebola virus proteins reveals TM9SF2 as a cell‐surface attachment factor that promotes viral entry

iMetaOmics, Volume 3, Issue 3, September 2026.
This study generates a comprehensive Ebola virus (EBOV)‐human protein–protein interactome, comprising 1728 core high‐confidence interactions. Further interactome analysis revealed the potential association of EBOV glycoprotein (GP) with the host factor TM9SF2. Subsequent mechanistic investigations confirmed that TM9SF2 functions as an attachment factor
Limin Shang, Shouwen Du, Yuchen Liu, Letian Li, Xi Wu, Yanzhi Yuan, Chaozhi Jin, Qingkun Mi, Yuhang Wang, Xiaoshuang Shi, Jiamin Wang, Guoqing Zhang, Yidan Ma, Weijin Huang, Jigang Wang, Jian Wang, Chang Li   +16 more
wiley   +1 more source

Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C. [PDF]

BACKGROUND Niemann-Pick disease type C is a rare lysosomal storage disorder. We evaluated the safety and efficacy of N-acetyl-l-leucine (NALL), an agent that potentially ameliorates lysosomal and metabolic dysfunction, for the treatment of Niemann ...
Jones, Simon, Kay, Richard, Hahn, Andreas, Marquardt, Thorsten, Wibawa, Pierre, Sivananthan, Siyamini, Kolnikova, Miriam, Schneider, Susanne A, Gowing, Francesca, Mengel, Eugen, Martakis, Kyriakos, Walterfang, Mark, Arash-Kaps, Laila, Park, Julien H, Reichmannová, Stella, Ramaswami, Uma, Gissen, Paul, Strupp, Michael, Gautschi, Matthias, Bremova-Ertl, Tatiana, Brands, Marion, Foltan, Tomas   +21 more
core   +1 more source