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Goldberg-Shprintzen megacolon syndrome

Also Known As:

Goldberg-Shprintzen syndrome

Networked: 8 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Nervous System Diseases (Neurological Disorders)
2.	Microcephaly
3.	Intellectual Disability (Idiocy)

Experts

1.	Hofstra, Robert M W: 2 articles (11/2020 - 12/2010)
2.	Cianfrocco, Michael A: 1 article (11/2021)
3.	Haynes, Sarah E: 1 article (11/2021)
4.	Jepsen, Lauren: 1 article (11/2021)
5.	Nesvizhskii, Alexey I: 1 article (11/2021)
6.	Ohi, Ryoma: 1 article (11/2021)
7.	Schutt, Katherine L: 1 article (11/2021)
8.	Sept, David: 1 article (11/2021)
9.	Solon, April L: 1 article (11/2021)
10.	Stumpff, Jason: 1 article (11/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Goldberg-Shprintzen megacolon syndrome:

1.	KinesinsIBA 11/19/2021 - "Kinesin-binding protein (KIFBP), which is mutated in Goldberg-Shprintzen syndrome, binds to and inhibits the catalytic motor heads of 8 of 45 kinesin superfamily members, but the mechanism remains poorly defined. " 04/01/2021 - "Kinesin-binding protein (KBP) is an important selective inhibitor of specific kinesin family members and its genetic disruption causes Goldberg-Shprintzen syndrome. " 11/01/2020 - "Goldberg-Shprintzen syndrome (GOSHS) is caused by loss of function variants in the kinesin binding protein gene (KIFBP). " 04/04/2016 - "Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 cause the neurological disorder Goldberg-Shprintzen syndrome (GOSHS), which is characterized by intellectual disability, microcephaly, and axonal neuropathy. "
2.	Carrier Proteins (Binding Protein)IBA 11/19/2021 - "Kinesin-binding protein (KIFBP), which is mutated in Goldberg-Shprintzen syndrome, binds to and inhibits the catalytic motor heads of 8 of 45 kinesin superfamily members, but the mechanism remains poorly defined. " 04/01/2021 - "Kinesin-binding protein (KBP) is an important selective inhibitor of specific kinesin family members and its genetic disruption causes Goldberg-Shprintzen syndrome. " 11/01/2020 - "Goldberg-Shprintzen syndrome (GOSHS) is caused by loss of function variants in the kinesin binding protein gene (KIFBP). " 04/04/2016 - "Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 cause the neurological disorder Goldberg-Shprintzen syndrome (GOSHS), which is characterized by intellectual disability, microcephaly, and axonal neuropathy. "
3.	Proteins (Proteins, Gene)FDA Link 01/01/2021 - "Goldberg-Shprintzen syndrome protein KIF1BP is a CITK interactor implicated in cytokinesis." 02/01/2008 - "Mutations in Kif1-binding protein/KIAA1279 (KBP) cause the devastating neurological disorder Goldberg-Shprintzen syndrome (GSS) in humans. " 12/20/2010 - "Recently, we found that KBP, encoded by the gene involved in a HSCR- associated syndrome called Goldberg-Shprintzen syndrome, interacts with SCG10, a stathmin-like protein. "
4.	Nonsense Codon (Nonsense Mutation)IBA 01/01/2017 - "Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome." 04/04/2016 - "Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 cause the neurological disorder Goldberg-Shprintzen syndrome (GOSHS), which is characterized by intellectual disability, microcephaly, and axonal neuropathy. "
5.	StathminIBA 12/20/2010 - "Recently, we found that KBP, encoded by the gene involved in a HSCR- associated syndrome called Goldberg-Shprintzen syndrome, interacts with SCG10, a stathmin-like protein. "