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Jonathan D Gitlin Selected Research

Menkes Kinky Hair Syndrome (Menkes Disease)

11/2015Autonomous requirements of the Menkes disease protein in the nervous system.
6/2015X-linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuron.
12/2012Maternofetal and neonatal copper requirements revealed by enterocyte-specific deletion of the Menkes disease protein.
1/2012Conditional knockout of the Menkes disease copper transporter demonstrates its critical role in embryogenesis.
3/2008In vivo correction of a Menkes disease model using antisense oligonucleotides.
3/2007Copper deficiency.
10/2006Role of the Menkes copper-transporting ATPase in NMDA receptor-mediated neuronal toxicity.
8/2006Atp7a determines a hierarchy of copper metabolism essential for notochord development.
4/2006Copper homeostasis in the CNS: a novel link between the NMDA receptor and copper homeostasis in the hippocampus.
1/2005NMDA receptor activation mediates copper homeostasis in hippocampal neurons.

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Jonathan D Gitlin Research Topics

Disease

10Menkes Kinky Hair Syndrome (Menkes Disease)
11/2015 - 01/2005
9Neurodegenerative Diseases (Neurodegenerative Disease)
11/2015 - 01/2002
3Seizures (Absence Seizure)
11/2015 - 10/2006
2Failure to Thrive
06/2015 - 10/2006
2Spinal Muscular Atrophies of Childhood (Werdnig Hoffman Disease)
06/2015 - 01/2012
2Muscle Hypotonia (Hypotonia)
06/2015 - 10/2006
2Hypoxia (Hypoxemia)
03/2009 - 07/2008
2Congenital Abnormalities (Deformity)
12/2008 - 08/2006
2Inborn Genetic Diseases (Disease, Hereditary)
03/2008 - 06/2003
2Neurologic Manifestations (Neurological Manifestations)
03/2007 - 10/2002
1Demyelinating Diseases (Demyelinating Disease)
11/2015
1Intellectual Disability (Idiocy)
11/2015
1Ataxia (Dyssynergia)
11/2015
1Muscular Atrophy (Muscle Atrophy)
06/2015
1Metabolic Diseases (Metabolic Disease)
03/2008
1Hepatolenticular Degeneration (Wilson's Disease)
10/2007
1Central Nervous System Diseases (CNS Diseases)
01/2007
1Glut1 Deficiency Syndrome
05/2006
1Brain Diseases (Brain Disorder)
05/2006
1Anemia
10/2002
1Hyperferritinemia
10/2002
1Cytochrome-c Oxidase Deficiency
10/2002
1Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease)
04/2002
1Motor Neuron Disease (Primary Lateral Sclerosis)
04/2002

Drug/Important Bio-Agent (IBA)

14CopperIBA
11/2015 - 04/2002
4Proteins (Proteins, Gene)FDA Link
11/2015 - 10/2002
4P-type ATPasesIBA
03/2008 - 01/2005
3IronIBA
01/2007 - 01/2002
3Ceruloplasmin (Ferroxidase)IBA
10/2002 - 01/2002
2Copper Transport ProteinsIBA
11/2015 - 01/2012
2Copper-Transporting ATPasesIBA
12/2012 - 10/2006
2Adenosine Triphosphatases (ATPase)IBA
10/2007 - 04/2006
2Familial apoceruloplasmin deficiencyIBA
01/2002 - 01/2002
1N-Methylaspartate (NMDA)IBA
11/2015
1Cofilin 2IBA
03/2009
1Oxygen (Dioxygen)IBA
03/2009
1ProteomeIBA
03/2009
1AMP-Activated Protein KinasesIBA
07/2008
1Antisense OligonucleotidesIBA
03/2008
1Messenger RNA (mRNA)IBA
03/2008
1OligonucleotidesIBA
03/2008
1Facilitative Glucose Transport Proteins (Glucose Transporter)IBA
05/2006
1Superoxide Dismutase-1IBA
04/2002

Therapy/Procedure

2Therapeutics
03/2008 - 03/2007
1Denervation
06/2015