Biochemical mechanisms of aggregation in TGFBI-linked corneal dystrophies
NS Nielsen, ET Poulsen, MV Lukassen… - Progress in Retinal and …, 2020 - Elsevier
Transforming growth factor-β-induced protein (TGFBIp), an extracellular matrix protein, is the
second most abundant protein in the corneal stroma. In this review, we summarize the …
second most abundant protein in the corneal stroma. In this review, we summarize the …
ITIH4 acts as a protease inhibitor by a novel inhibitory mechanism
Inter-α-inhibitor heavy chain 4 (ITIH4) is a poorly characterized plasma protein that is
proteolytically processed in multiple pathological conditions. However, no biological function …
proteolytically processed in multiple pathological conditions. However, no biological function …
[HTML][HTML] Genetically proxied HTRA1 protease activity and circulating levels independently predict risk of ischemic stroke and coronary artery disease
M Dichgans, R Malik, N Beaufort, K Tanaka… - Research …, 2023 - ncbi.nlm.nih.gov
HTRA1 has emerged as a major risk gene for stroke and cerebral small vessel disease with
both rare and common variants contributing to disease risk. However, the precise …
both rare and common variants contributing to disease risk. However, the precise …
[HTML][HTML] Evaluation of cerebrospinal fluid (CSF) and interstitial fluid (ISF) mouse proteomes for the validation and description of Alzheimer's disease biomarkers
AM Górska, I Santos-García, I Eiriz, T Brüning… - Journal of Neuroscience …, 2024 - Elsevier
Background Mass spectrometry (MS)-based cerebrospinal fluid (CSF) proteomics is an
important method for discovering biomarkers of neurodegenerative diseases. CSF serves as …
important method for discovering biomarkers of neurodegenerative diseases. CSF serves as …
TGF-β/Smad Signalling Activation by HTRA1 Regulates the Function of Human Lens Epithelial Cells and Its Mechanism in Posterior Subcapsular Congenital Cataract
X Lin, T Yang, X Liu, F Fan, X Zhou, H Li… - International Journal of …, 2022 - mdpi.com
Congenital cataract is the leading cause of blindness among children worldwide. Patients
with posterior subcapsular congenital cataract (PSC) in the central visual axis can result in …
with posterior subcapsular congenital cataract (PSC) in the central visual axis can result in …
A Novel Heterozygous TGFBI c. 1613C> A Pathogenic Variant is Associated With Lattice Corneal Dystrophy in a Chinese Family
M Fu, S Duan, X Zhang, J Wang, S Wang… - American Journal of …, 2023 - Elsevier
Purpose To investigate the gene mutations and relationship of clinical manifestation in a
Chinese family with familial lattice corneal dystrophy (LCD). Design Single-family case …
Chinese family with familial lattice corneal dystrophy (LCD). Design Single-family case …
[HTML][HTML] Pharmaceutical modulation of the proteolytic profile of Transforming Growth Factor Beta induced protein (TGFBIp) offers a new avenue for treatment of TGFBI …
A Venkatraman, MD Duong-Thi, K Pervushin… - Journal of Advanced …, 2020 - Elsevier
Corneal dystrophies are a group of genetically inherited disorders with mutations in the
TGFBI gene affecting the Bowman's membrane and the corneal stroma. The mutant TGFBIp …
TGFBI gene affecting the Bowman's membrane and the corneal stroma. The mutant TGFBIp …
Release of frustration drives corneal amyloid disaggregation by brain chaperone
JYK Low, X Shi, V Anandalakshmi, D Neo… - Communications …, 2023 - nature.com
TGFBI-related corneal dystrophy (CD) is characterized by the accumulation of insoluble
protein deposits in the corneal tissues, eventually leading to progressive corneal opacity …
protein deposits in the corneal tissues, eventually leading to progressive corneal opacity …
Targeted expression of tgfbip peptides in mouse and human tissue by maldi-mass spectrometry imaging
Stromal corneal dystrophies are a group of hereditary disorders caused by mutations in the
TGFBI gene. The mutant TGFBIp is prone to protein aggregation and the mutant protein gets …
TGFBI gene. The mutant TGFBIp is prone to protein aggregation and the mutant protein gets …
ACSS2 upregulation enhances neuronal resilience to aging and tau-associated neurodegeneration
Epigenetic mechanisms, including histone acetylation, are pivotal for learning and memory,
with a role in neuronal function in Alzheimer's disease and Related Dementia (ADRD) …
with a role in neuronal function in Alzheimer's disease and Related Dementia (ADRD) …