Search Our Scientific Publications & Authors

J Phys Chem B 2021 Mar 8. Epub 2021 Mar 8.

Myocilin-associated glaucoma is a new addition to the list of diseases linked to protein misfolding and amyloid formation. Single point variants of the ∼257-residue myocilin olfactomedin domain (mOLF) lead to mutant myocilin aggregation. Here, we analyze the 12-residue peptide P1 (GAVVYSGSLYFQ), corresponding to residues 326-337 of mOLF, previously shown to form amyloid fibrils and . Read More

Open Med (Wars) 2021 17;16(1):299-310. Epub 2021 Feb 17.

Department of Human Genetics, Guru Nanak Dev University, Amritsar, India.

Mannose-binding lectin (MBL) and lectin complement pathway have become targets of increasing clinical interest. Many aspects of MBL have been recently explored, including the structural properties that allow it to distinguish self from non-self/altered-self structures. Experimental evidences have declared the additional 5'- and 3'-variants that in amalgamation with well-known secretor polymorphisms change MBL function and concentration. Read More

Front Cardiovasc Med 2021 17;8:635280. Epub 2021 Feb 17.

Stanford Cardiovascular Institute, Stanford University, Stanford, CA, United States.

Congenital heart disease (CHD) is a multifaceted cardiovascular anomaly that occurs when there are structural abnormalities in the heart before birth. Although various risk factors are known to influence the development of this disease, a full comprehension of the etiology and treatment for different patient populations remains elusive. For instance, racial minorities are disproportionally affected by this disease and typically have worse prognosis, possibly due to environmental and genetic disparities. Read More

Front Cell Dev Biol 2021 11;9:581805. Epub 2021 Feb 11.

Institute of Biochemistry, Christian-Albrechts-Universität zu Kiel, Kiel, Germany.

Cathepsin D (CTSD) is a lysosomal protease important for the degradation of various substrates, including disease-associated proteins like α-synuclein (a-syn), amyloid precursor protein (APP) and tau, all of which tend to aggregate if not efficiently degraded. Hence, it is not surprising that genetic variants within the gene have been linked to neurodegenerative diseases, like Parkinson's and Alzheimer's disease (PD, AD), as well as the lysosomal storage disorder neuronal ceroid lipofuscinosis type-10 (NCL10). Although recent studies have shown the molecular dependence of substrate degradation via CTSD within autophagic pathways, only little is known about the precise role of lysosomal CTSD function in disease development. Read More

Front Pediatr 2021 18;9:641841. Epub 2021 Feb 18.

Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.

O'Donnell-Luria-Rodan syndrome was recently identified as an autosomal dominant systemic disorder caused by variants in . It is characterized by global developmental delay, some patients also exhibit autism, seizures, hypotonia, and/or feeding difficulties. Whole-exome sequencing of family trios were performed for two independent children with unexplained recurrent seizures and developmental delay. Read More