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Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

Nature communications, 2017-11, Vol.8 (1), p.1257-15, Article 1257

2017

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NMNAT promotes glioma growth through regulating post-translational modifications of P53 to inhibit apoptosis

eLife, 2021-12, Vol.10

2021

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Reduction of spermine synthase enhances autophagy to suppress Tau accumulation

Cell death & disease, 2024-05, Vol.15 (5), p.333-10, Article 333

2024

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Exposure to Aerosolized Algal Toxins in South Florida Increases Short- and Long-Term Health Risk in Drosophila Model of Aging

Toxins, 2020-12, Vol.12 (12), p.787

2020

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Phenylbutyrate modulates polyamine acetylase and ameliorates Snyder-Robinson syndrome in a Drosophila model and patient cells

JCI insight, 2022-07, Vol.7 (13)

2022

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Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

Nature communications, 2018-01, Vol.9 (1), p.337-1, Article 337

2018

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Nmnat restores neuronal integrity by neutralizing mutant Huntingtin aggregate-induced progressive toxicity

Proceedings of the National Academy of Sciences - PNAS, 2019-09, Vol.116 (38), p.19165-19175

2019

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E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice

Journal of cell science, 2005-08, Vol.118 (16), p.3675-3683

2005

Volltextzugriff (PDF)

Generation and Functional Characterization of Knock-in Mice Harboring the Cardiac Troponin I-R21C Mutation Associated with Hypertrophic Cardiomyopathy

The Journal of biological chemistry, 2012-01, Vol.287 (3), p.2156-2167

2012

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Prolonged Ca2+ and force transients in myosin RLC transgenic mouse fibers expressing malignant and benign FHC mutations

Journal of molecular biology, 2006-08, Vol.361 (2), p.286-299

2006

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Fast skeletal muscle regulatory light chain is required for fast and slow skeletal muscle development

The FASEB journal, 2007-07, Vol.21 (9), p.2205-2214

2007

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Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

Frontiers in medicine, 2017-05, Vol.4, p.62

2017

Volltextzugriff (PDF)

Protein Kinase a Phosphorylation of Cardiac Troponin I Prevents Cardiac Hypertrophy in Mice

Biophysical journal, 2010-01, Vol.98 (3), p.148a-148a

2010

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Prolonged Ca 2+ and Force Transients in Myosin RLC Transgenic Mouse Fibers Expressing Malignant and Benign FHC Mutations

Journal of molecular biology, 2006, Vol.361 (2), p.286-299

2006

Volltextzugriff (PDF)

Caracterización de los pacientes con nefritis lúpica en Las Tunas

Universidad Médica Pinareña, 2020-03, Vol.16 (1), p.463-463

2020

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Second Generation Antipsychotics (SGAs) in Schizophrenic Patients and Bipolar Disorder: Correlation With Metabolic Syndrome (NCEP ATP III(a))

Global journal of health science, 2018-12, Vol.11 (1), p.28

2018

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Albuminuria as a predictive factor of hypertensive nephropathy

Revista electrónica "Dr. Zoilo E. Marinello Vidaurreta", 2019-10, Vol.44 (5)

2019

Volltextzugriff (PDF)

Caracterización de los pacientes con nefritis lúpica en Las Tunas

Universidad Médica Pinareña, 2020-03, Vol.16 (1S), p.e463-e463

2020

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Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

NMNAT promotes glioma growth through regulating post-translational modifications of P53 to inhibit apoptosis

Reduction of spermine synthase enhances autophagy to suppress Tau accumulation

Exposure to Aerosolized Algal Toxins in South Florida Increases Short- and Long-Term Health Risk in Drosophila Model of Aging

Phenylbutyrate modulates polyamine acetylase and ameliorates Snyder-Robinson syndrome in a Drosophila model and patient cells

Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

Nmnat restores neuronal integrity by neutralizing mutant Huntingtin aggregate-induced progressive toxicity

E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice

Generation and Functional Characterization of Knock-in Mice Harboring the Cardiac Troponin I-R21C Mutation Associated with Hypertrophic Cardiomyopathy

Prolonged Ca2+ and force transients in myosin RLC transgenic mouse fibers expressing malignant and benign FHC mutations

Fast skeletal muscle regulatory light chain is required for fast and slow skeletal muscle development

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

Protein Kinase a Phosphorylation of Cardiac Troponin I Prevents Cardiac Hypertrophy in Mice

Prolonged Ca 2+ and Force Transients in Myosin RLC Transgenic Mouse Fibers Expressing Malignant and Benign FHC Mutations

Caracterización de los pacientes con nefritis lúpica en Las Tunas

Second Generation Antipsychotics (SGAs) in Schizophrenic Patients and Bipolar Disorder: Correlation With Metabolic Syndrome (NCEP ATP III(a))

Albuminuria as a predictive factor of hypertensive nephropathy

Caracterización de los pacientes con nefritis lúpica en Las Tunas

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