Marcel V. Alavi
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View article: Understanding local population genetics improves variant interpretation in rare genetic disorders
Understanding local population genetics improves variant interpretation in rare genetic disorders Open
Exome sequencing in underrepresented populations reveals unique variant spectra that improve interpretation of rare genetic disorders. We introduce IRExom, a registry of over 3,000 exomes from Iranian patients enriched for rare diseases, p…
View article: Operational Excellence - AI as Third Peer Reviewer
Operational Excellence - AI as Third Peer Reviewer Open
This response to the Request for Information (RFI) Inviting Comments on the NIH Artificial Intelligence (AI) Strategy with the Notice Number: NOT-OD-25-117 is motivated by the prevailing poor research quality and equally low ethical standa…
View article: Recent advances in, and challenges of, designing OMA1 drug screens
Recent advances in, and challenges of, designing OMA1 drug screens Open
View article: OMA1 High-Throughput Screen Reveals Protease Activation by Kinase Inhibitors
OMA1 High-Throughput Screen Reveals Protease Activation by Kinase Inhibitors Open
Mitochondrial proteases are interesting but challenging drug targets for multifactorial diseases, such as neurodegeneration and cancer. The mitochondrial inner membrane protease OMA1 is a bona fide drug target for heart failure supported b…
View article: OMA1 High-throughput Screen Reveals Protease Activation by Kinase Inhibitors
OMA1 High-throughput Screen Reveals Protease Activation by Kinase Inhibitors Open
Mitochondrial proteases are interesting but challenging drug targets for multifactorial diseases, such as neurodegeneration and cancer. The mitochondrial inner membrane protease OMA1 is a bona fide drug target for heart failure supported b…
View article: Tau phosphorylation and OPA1 proteolysis are unrelated events: Implications for Alzheimer's Disease
Tau phosphorylation and OPA1 proteolysis are unrelated events: Implications for Alzheimer's Disease Open
View article: OMA1—An integral membrane protease?
OMA1—An integral membrane protease? Open
View article: Targeted OMA1 therapies for cancer
Targeted OMA1 therapies for cancer Open
The mitochondrial inner membrane proteins OMA1 and OPA1 belong to the BAX/BAK1‐dependent apoptotic signaling pathway, which can be regulated by tumor protein p53 and the prohibitins PHB and PHB2 in the context of neoplastic disease. For th…
View article: Long-term photoreceptor rescue in two rodent models of retinitis pigmentosa by adeno-associated virus delivery of Stanniocalcin-1
Long-term photoreceptor rescue in two rodent models of retinitis pigmentosa by adeno-associated virus delivery of Stanniocalcin-1 Open
View article: Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis
Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis Open
Individuals with heterozygous GRN mutations exhibit clinicopathological hallmarks of neuronal ceroid lipofuscinosis.
View article: Col4a1 mutations cause progressive retinal neovascular defects and retinopathy
Col4a1 mutations cause progressive retinal neovascular defects and retinopathy Open
Mutations in collagen, type IV, alpha 1 (COL4A1), a major component of basement membranes, cause multisystem disorders in humans and mice. In the eye, these include anterior segment dysgenesis, optic nerve hypoplasia and retinal vascular t…
View article: In Vivo Visualization of Endoplasmic Reticulum Stress in the Retina Using the ERAI Reporter Mouse
In Vivo Visualization of Endoplasmic Reticulum Stress in the Retina Using the ERAI Reporter Mouse Open
© 2015 The Association for Research in Vision and Ophthalmology, Inc. PURPOSE. Endoplasmic reticulum (ER) stress activates inositol requiring enzyme 1 (IRE1), a key regulator of the unfolded protein response. The ER stress activated indic…
View article: Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in<i>Col4a1</i>Mutant Mice
Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in<i>Col4a1</i>Mutant Mice Open
Ocular defects in Col4a1 mutant mice model ASD and glaucoma that are observed in a subset of patients with COL4A1 mutations. We demonstrate that different inbred strains of mice give graded severities of ASD and we detected elevated IOP an…