Results 71 to 80 of about 2,830 (159)

The Grey Zone Project: Risk‐Based Classification of ABCD1 Variants in X‐Linked Adrenoleukodystrophy

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Newborn screening (NBS) for X‐linked adrenoleukodystrophy (ALD) enables early identification of boys at risk for adrenal insufficiency (AI) and cerebral ALD (CALD). However, NBS frequently identifies ABCD1 variants of uncertain significance (VUS), which are associated with only borderline‐elevated C26:0‐lysophosphatidylcholine (LPC(26:0 ...
Troy C. Lund, Kelly Miettunen, Yorrick R. J. Jaspers, Caroline Bergner, Joshua L. Bonkowsky, Fabio Bruschi, Julie S. Cohen, Inge M. E. Dijkstra, Florian S. Eichler, Eric J. Mallack, Gajja S. Salomons, Robert Thompson, Davide Tonduti, Keith P. van Haren, Mirjam M. C. Wamelink, Ayelet Zerem, Marc Engelen, Stephan Kemp   +17 more
wiley   +1 more source

Prodromal Parkinsonian Features in Carriers of Gaucher Disease Compared to Controls

Life
Carriers of Gaucher disease have an increased risk of developing Parkinson’s disease (PD). Identifying PD in its prodromal stage is crucial, as early detection before motor symptoms appear allows for potential interventions to salvage neurons and slow or
Michal Becker-Cohen, Ari Zimran, Tama Dinur, Maayan Tiomkin, Arndt Rolfs, David Arkadir, Peter Bauer, Elena Shulman, Gilad Yahalom, Mikhal E. Cohen, Orly Manor, Ora Paltiel, Shoshana Revel-Vilk   +12 more
doaj   +1 more source

Maternal and Fetal Outcomes in Imiglucerase‐Treated Patients With Gaucher Disease: Real‐World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub‐Registry

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
This graphical abstract highlight the real‐world maternal and fetal outcomes in imiglucerase‐treated patients with Gaucher disease from the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub‐Registry. ABSTRACT Untreated women with Gaucher disease (GD) are at an increased risk of GD‐related complications during pregnancy ...
Shoshana Revel‐Vilk, Patrick Deegan, Debra Day‐Salvatore, Ozlem Goker‐Alpan, Eugen Mengel, Julie L. Batista, Jenny L. Carwile, Gabriela Perichon, Can Ficicioglu   +8 more
wiley   +1 more source

Lysosomal Pathogenesis of Parkinson's Disease: Insights From LRRK2 and GBA1 Rodent Models

Neurotherapeutics, 2023
The discovery of mutations in LRRK2 and GBA1 that are linked to Parkinson's disease provided further evidence that autophagy and lysosome pathways are likely implicated in the pathogenic process. Their protein products are important regulators of lysosome function.
openaire   +2 more sources

Trans‐Omics Integration Reveals That the Kidney Contributes to Systemic Aging via Sexually Dimorphic Accumulation of Glycosphingolipids

MedComm, Volume 7, Issue 3, March 2026.
Female‐specific renal GluCer accumulation disrupts mitochondrial quality control via a conserved purine‐mTORC1 pathway, triggering a wave of uremic toxins into the systemic circulation that constitutes a female‐biased vulnerability toward renal‐driven multiorgan senescence.
Zhen Ni, Chenyin Cao, Yanlin Tian, Jinming Mu, He Tian, Zehua Wang, Shaohua Zhang, Mingjun Cao, Yuntian Yang, Wei Ling Florence Lim, Jingkang Cui, Huan Sun, Huan Miao, Yuan Wang, Jie Du, Timothy Kwok, Huan Chen, Sin Man Lam, Guanghou Shui   +18 more
wiley   +1 more source

CRISPR Enabled Precision Oncology: From Gene Editing to Tumor Microenvironment Remodeling

Med Research, Volume 2, Issue 1, Page 106-129, March 2026.
CRISPR technology has progressed from a prokaryotic immune system to a diverse suite of editing platforms, including Cas nucleases, base and prime editors, and RNA‐targeting enzymes. These advances enable precise genomic and epigenomic interventions, high‐throughput functional screening, and immune engineering.
Kailai Li, Peixin Huang, Yue Qian, Anqi Lin, Jingjun He, Junyi Shen, Li Chen, Kai Miao, Jian Zhang   +8 more
wiley   +1 more source

The emerging role of autophagic-lysosomal dysfunction in Gaucher disease and Parkinson's disease

Neural Regeneration Research, 2017
Gaucher disease (GD), the commonest lysosomal storage disorder, results from the lack or functional deficiency of glucocerebrosidase (GCase) secondary to mutations in the GBA1 gene. There is an established association between GBA1 mutations and Parkinson'
Kerri J Kinghorn, Amir M Asghari, Jorge Iván Castillo-Quan   +2 more
doaj   +1 more source

The endoplasmic reticulum in mitochondrial protein targeting: A neuronal perspective on organelle crosstalk

Protein Science, Volume 35, Issue 3, March 2026.
Abstract Neurons depend on tightly regulated spatial proteostasis to maintain function across their extended morphology. The endoplasmic reticulum (ER), traditionally known for its function in protein synthesis, folding, and trafficking, has long been recognized as a central platform for directing proteins to organelles of the secretory and endocytic ...
J. Tabitha Hees, Angelika B. Harbauer
wiley   +1 more source

Variant‐specific effects of GBA1 mutations on dopaminergic neuron proteostasis

Journal of Neurochemistry
AbstractGlucocerebrosidase 1 (GBA1) mutations are the most important genetic risk factors for Parkinson's disease (PD). Clinically, mild (e.g., p.N370S) and severe (e.g., p.L444P and p.D409H) GBA1 mutations have different PD phenotypes, with differences in age at disease onset, progression, and the severity of motor and non‐motor symptoms.
Onal, G, Yalçın‐Çakmaklı, G, Özçelik, CE, Boussaad, I, Şeker, UÖŞ, Fernandes, HJR, Demir, H, Krüger, R, Elibol, B, Dökmeci, S, Salman, MM   +10 more
openaire   +3 more sources

Phenotypic consequences of GBA1 pathological variant R463C (p.R502C)

American Journal of Medical Genetics Part A
AbstractGaucher disease (GD) is an autosomal recessively inherited lysosomal storage disorder caused by biallelic pathological variants in the GBA1 gene. Patients present along a broad clinical spectrum, and phenotypes are often difficult to predict based on genotype alone. The variant R463C (p.Arg502Cys) exemplifies this challenge.
Emory Ryan, Samantha Nishimura, Grisel Lopez, Nahid Tayebi, Ellen Sidransky   +4 more
openaire   +3 more sources