Results 71 to 80 of about 3,802,908 (215)

Glucose Transporter Deficiency Syndrome Type 1 (Glut1‐DS): New Insights From a Brazilian Cohort of Patients

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Glucose transporter deficiency syndrome type 1 (Glut1‐DS) is a rare neurometabolic disorder caused by pathogenic variants in SLC2A1, characterized by epilepsy, neurodevelopmental delay, movement disorders, dysarthria, intellectual disability, and postnatal microcephaly.
Lívia Maria Ferreira Sobrinho, Juliana Cristine Fontana, Claudia F. Lorea, Helio van der Linden Júnior, Andréa C. S. Leite, Rayana Elias Maia, Lilia Farret, Carolina F. Moura de Souza, Soraia Poloni, Fabiano O. Poswar, Ida Vanessa D. Schwartz, Fernanda Sperb‐Ludwig   +11 more
wiley   +1 more source

The Role of Patients' Treatment Expectations in Ventricular Assist Device Support: Results From a Convergent Mixed Methods Study

Artificial Organs, Volume 50, Issue 9, Page 1305-1314, September 2026.
This mixed methods study aimed to: (i) identify treatment expectations held by individuals with a ventricular assist device (VAD), (ii) assess the extent to which these expectations have been met, and (iii) examine how treatment expectations relate to VAD‐specific health‐related quality of life (HRQoL) ABSTRACT Objectives Treatment expectations ...
Simon Felix Zerth, Bernd Niemann, Miriam Salzmann‐Djufri, Sandra Semmig‐Könze, Katharina Tigges‐Limmer, Yvonne Brocks, Monika Sadlonova, Anna Markser, Tanja Zimmermann, Lara Kristin Oldach, Stefan Salzmann   +10 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

Mapping the Young‐Onset Dementia Research in the Asia‐Pacific Region: A Scoping Review

Asia-Pacific Psychiatry, Volume 18, Issue 3, September 2026.
ABSTRACT Young‐onset dementia (YOD), with symptom onset before 65, is an area of increasing public health importance. YOD research in Asia‐Pacific remains under‐represented in the global YOD research landscape. This scoping review aimed to comprehensively map the existing YOD literature from Asia‐Pacific and provide an overview of the research topics ...
Gia Tan, Gary Cheung, Samantha M. Loi, Etuini Ma'u, Campbell Le Heron, Monica Cations, Nick Garrett, Megan Eustace, So Young Moon, Eun‐Joo Kim, Kok Pin Ng, Adeline S. L. Ng, Huali Wang, Isabelle Burke, Kenny Ong, Brigid Ryan   +15 more
wiley   +1 more source

'The role of ferroptosis in Niemann-Pick disease' [PDF]

openLa malattia di Niemann-Pick di tipo C (NPCD) è una malattia genetica rara appartenente al gruppo di malattie da accumulo lisosomiale. Questa patologia è principalmente causata dalla mutazione del gene npc1 che codifica per una proteina della ...
MAIORINO, SOFIA
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Medications That Regulate Pregnane X Receptor: A Systematic Review of Current Evidence

Pharmacology Research &Perspectives, Volume 14, Issue 4, August 2026.
PRISMA 2020 flow diagram of study selection for this systematic review of medications that regulate the pregnane X receptor (PXR), from 12 236 records screened to 101 included studies. ABSTRACT The pregnane X receptor (PXR) gene encodes a ligand‐activated protein involved with the metabolism and excretion of drugs, toxins, and other xenobiotics.
Petra Czarniak, Rachael Moorin, Jeff Hughes, Karl Gruber, David Youens   +4 more
wiley   +1 more source

Postnatal BDNF-mediated cerebellar granule cell development is impaired in a mouse model of Niemann-Pick type C1 disease [PDF]

, 2021
Niemann-Pick type C1 disease (NPCD) is a lysosomal storage disorder due to mutations in NPC1, a lysosomal protein related to the Sonic Hedgehog (Shh) receptor and involved in the intracellular trafficking of cholesterol.
Jessica Tiberi, Sonia Canterini, Maria Teresa Fiorenza, Serena Camuso, Alessandro Rava, Piergiorgio La Rosa   +5 more
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Niemann-Pick type C disease

Journal of Lipid Research, 2002
We analyzed Niemann-Pick type C disease 1 (NP44406) gene in 12 patients with Niemann-Pick type C disease by sequencing both cDNA obtained from fibroblasts and genomic DNA. All the patients were compound heterozygotes.
Patrizia Tarugi, Giorgia Ballarini, Bruno Bembi, Carla Battisti, Silvia Palmeri, Francesca Panzani, Enza Di Leo, Cristina Martini, Antonio Federico, Sebastiano Calandra   +9 more
doaj   +1 more source

The ubiquitin‐proteasome system and autophagy as guardians of the cellular proteome

FEBS Letters, Volume 600, Issue 13, Page 1829-1841, July 2026.
This Perspective covers the three principles governing the crosstalk between the ubiquitin‐proteasome system and autophagy in cellular proteostasis: (1) a shared ubiquitin code routing substrates via shuttle factors or autophagy receptors; (2) spatial compartmentalization into phase‐separated degradation hubs and organelle‐specific modules (exemplified
Ivan Dikic
wiley   +1 more source

Emotional wounds: NIEMANN – PICK DISEASE [PDF]

, 2010
In 1914 the German pediatrician Albert Niemann described a Jewish child with damage to the brain and nervous system. Subsequently, in 1927, Ludwig Pick analyzed the tissues from deceased children and provided evidence of a new storage disease, not ...
F. PALMA, PALMA, FULVIO, LINDA PALMA, PATRIZIA COLONNA, VALENTINA GIOVAGNOLI   +4 more
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