Results 181 to 190 of about 21,042 (237)

Maternal Nutritional Status Governs Fetal Development by Modulating Imprinting Gene GAB1‐Mediated Trophoblast Differentiation in the Placenta

Cell Proliferation, EarlyView.
Maternal nutrient restriction disrupts placental homeostasis via GAB1 dysregulation—involving both transcriptional downregulation and autophagy‐dependent protein degradation. These molecular alterations inhibit MAPK signalling‐mediated trophoblast fusion, leading to structural and functional deficits in the maternal–fetal exchange interface.
Mingming Fan, Hongyu Wu, Yuan Xie, Ming Liu, Xin Yu, Feiyang Wang, Zhenyu Xiao, Hongmei Wang, Xuan Shao, Yan‐Ling Wang   +9 more
wiley   +1 more source

The Neuroprotective Role of Ginsenoside Rg1 Against Cerebral Ischemia–Reperfusion Damage Through Inhibition of Mitophagy via Blocking Mitophagosome‐Lysosome Fusion

Cell Proliferation, EarlyView.
The present study revealed the neuroprotective effect of ginsenoside Rg1 against cerebral ischemia–reperfusion injury through inhibition of mitophagy via blocking mitophagosome‐lysosome fusion both in vivo and in vitro models. ABSTRACT Ginsenoside Rg1 has shown promise in ameliorating cerebral ischemia–reperfusion injury (CIRI).
Lin Ai, Hangui Ren, Yuan Wang, Mengfan Liu, Yufei Qiu, Jiling Feng, Rongchen Dai, Wang Fu, Yongpeng Wang, Zhichao Xi, Hongxi Xu, Feng Wang   +11 more
wiley   +1 more source

Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To address disease progression in a cohort of patients with childhood‐onset neuronal ceroid lipofuscinosis (NCL), a group of genetic disorders leading to progressive dementia. Method In this retrospective study, selected clinical features (age at onset, at death, and disease duration) and pathogenicity of individual genotypes were selected
Alessandro Simonati, Francesco Pezzini, Nardo Nardocci, CLNet Consortium, C Aiello, R Battini, R Biancheri, M Bonsignore, R Carrozzo, B Dalla Bernardina, S Della Vecchia, S Doccini, A Donati, M Filocamo, B Garavaglia, T Granata, S Grosso, AM Laverda, V Leuzzi, C Marini, M Mastrangelo, T Messena, M Salandin, S Sartori, N Specchio, P Striano, F Taioli, A Tessa, E Veneselli, Filippo M. Santorelli   +29 more
wiley   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, EarlyView.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Drug induced phospholipidosis: an acquired lysosomal storage disorder. [PDF]

Biochim Biophys Acta, 2013
Shayman JA, Abe A.
europepmc   +1 more source

Correction: Neurologic Abnormalities in Mouse Models of the Lysosomal Storage Disorders Mucolipidosis II and Mucolipidosis III γ

, 2014
The PLOS ONE Staff
openalex   +2 more sources

Long‐term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey

European Journal of Clinical Investigation, EarlyView.
Long‐term treatment with agalsidase alfa in 1864 adults with Fabry disease in the Fabry Outcome Survey confirmed previously reported beneficial effects on renal function and cardiomyopathy. Over a median (min, max) of 6.0 (0, 21.6) years of treatment, annualized changes in eGFR remained relatively stable in females and declined slightly in males.
Derralynn A. Hughes, Guillem Pintos‐Morell, Christoph Kampmann, Christina Anagnostopoulou, Jaco Botha, Siddharth Jain, Kathleen Nicholls, Dau‐Ming Niu, Ricardo Reisin, Michael L. West, Jörn Schenk, Uma Ramaswami, Roberto Giugliani   +12 more
wiley   +1 more source

A novel transgenic mouse model of lysosomal storage disorder.

Am J Physiol Gastrointest Liver Physiol, 2016
Ortiz-Miranda S, Ji R, Jurczyk A, Aryee KE, Mo S, Fletcher T, Shaffer SA, Greiner DL, Bortell R, Gregg RG, Cheng A, Hennings LJ, Rittenhouse AR.   +12 more
europepmc   +1 more source

Short coiled‐coil proteins from plants and metazoans – the ‘jacks of all trades’

The FEBS Journal, EarlyView.
Short coiled‐coil proteins from plants and metazoans—true ‘jacks of all trades’—play supporting but crucial roles in cellular stress response, metabolism, autophagy, and membrane dynamics. Despite their small size and modest sequence conservation, proteins like plant LSUs and metazoan SCOCs showcase remarkable functional versatility shaped by evolution,
Agnieszka Sirko, Jarosław Poznański, Marzena Sieńko   +2 more
wiley   +1 more source

Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature. [PDF]

Mol Cell Pediatr
El-Mezayen M, Tawfik AM, Hadhoud AM, Gerges VM, Afify MH.   +4 more
europepmc   +1 more source