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Functional Interaction of GBAS and SLC41A2 in Drosophila models for UDP_755

Award Number: R21GM119018
ORGANIZATION: NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 05/01/2019
PERIOD OF PERFORMANCE END DATE: 04/30/2021

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Functional Interaction of GBAS and SLC41A2 in Drosophila models for UDP_755 - PROJECT SUMMARY UDP_755 patient presents craniosynostosis, microcephaly, congenital extremity contractures, and global developmental delay. Genomic sequencing and bioinformatics analyses by the NIH-UDP program have identified two mutant variants, GBAS (NM_001483.2: c.181C>G; p.His61Asp) and SLC41A2 (NM_032148.3: c.1648G>A; p.Gly550Arg) as candidate causal mutations for UDP_755. GBAS gene encodes glioblastoma amplified sequence, a member of the NIPSNAP (4-nitrophenylphosphatase domain and non-neuronal SNAP25-like) gene family. GBAS is also known as NIPSNAP2. SLC41A2 encodes solute carrier family 41, member 2. SLC41A2 has been reported to mediate voltage-dependent Mg2+ uptake activity when expressed in Xenopus oocytes. The function of GBAS and SLC41A2 are largely unknown and no previous mutations have been identified or characterized. We plan to study the function of GBAS and SLC41A2 in vivo and establish Drosophila models for UDP_755, in collaboration with UDP to investigate the underlying genetics, biochemistry and pathophysiology of the GBAS and SLC41A2 mutant variants. The goal of this proposal is to seek mechanistic understanding of (1) the nature of mutant variant of GBAS and SLC41A2 identified in UDP_755, (2) the normal function of GBAS and SLC41A2, specifically in the nervous system, (3) the genetic interaction of GBAS and SLC41A2 in vivo, and (4) the pathological consequence of the combination of GBAS and SLC41A2 mutant alleles. Our studies proposed here will characterize the neuronal function of GBAS and SLC41A2 and analyze the neurological phenotypes associated with human mutant variants. The result will provide significant and important insights into the function of GBAS and SLC41A2 and the disease pathophysiology associated with UDP_755 neurological disorder. We believe that our multidisciplinary approaches involving several research models are the most appropriate to accelerate discoveries that can be subsequently translated to humans.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2026 ( Subtotal = -$24,842 )
2026	2019	UNIVERSITY OF MIAMI	1320 S DIXIE HWY STE 1200	CORAL GABLES	FL	33146	MIAMI-DADE	USA	Extramural Research Restoration Program: Hurricanes Harvey, Maria, and Irma â€“ non-construction	000	2	10/1/2025	SUPPLEMENT FOR EXPANSION	-$24,842
														Subtotal = -$24,842

Issue Date FY: 2021 ( Subtotal = -$1,135 )
2021	2019	UNIVERSITY OF MIAMI	1600 NW 10 AVE	MIAMI	FL	33136	MIAMI-DADE	USA	Extramural Research Restoration Program: Hurricanes Harvey, Maria, and Irma – non-construction	001	2	8/27/2021	SUPPLEMENT FOR EXPANSION	$0
2021	2017	UNIVERSITY OF MIAMI	1600 NW 10 AVE	MIAMI	FL	33136	MIAMI-DADE	USA	Trans-NIH Research Support	000	2	11/16/2020	SUPPLEMENT FOR EXPANSION	-$1,135
														Subtotal = -$1,135

Issue Date FY: 2019 ( Subtotal = $115,123 )
2019	2019	UNIVERSITY OF MIAMI	1600 NW 10 AVE	MIAMI	FL	33136	MIAMI-DADE	USA	Extramural Research Restoration Program: Hurricanes Harvey, Maria, and Irma – non-construction	000	2	3/28/2019	SUPPLEMENT FOR EXPANSION	$115,123
2019	2017	UNIVERSITY OF MIAMI	1600 NW 10 AVE	MIAMI	FL	33136	MIAMI-DADE	USA	Trans-NIH Research Support	001	2	3/29/2019	NON-COMPETING CONTINUATION	$0
2019	2017	UNIVERSITY OF MIAMI	1600 NW 10 AVE	MIAMI	FL	33136	MIAMI-DADE	USA	Trans-NIH Research Support	002	2	4/1/2019	SUPPLEMENT FOR EXPANSION	$0
														Subtotal = $115,123

Issue Date FY: 2018 ( Subtotal = $0 )
2018	2017	UNIVERSITY OF MIAMI	1600 NW 10 AVE	MIAMI	FL	33136	MIAMI-DADE	USA	Trans-NIH Research Support	000	2	5/23/2018	NON-COMPETING CONTINUATION	$0
2018	2017	UNIVERSITY OF MIAMI	1600 NW 10 AVE	MIAMI	FL	33136	MIAMI-DADE	USA	Trans-NIH Research Support	001	2	5/23/2018	SUPPLEMENT FOR EXPANSION	$0
														Subtotal = $0

Issue Date FY: 2017 ( Subtotal = $330,067 )
2017	2017	UNIVERSITY OF MIAMI	1600 NW 10 AVE	MIAMI	FL	33136	MIAMI-DADE	USA	Trans-NIH Research Support	001	2	9/4/2017	SUPPLEMENT FOR EXPANSION	$99,817
2017	2017	UNIVERSITY OF MIAMI	1600 NW 10 AVE	MIAMI	FL	33136	MIAMI-DADE	USA	Trans-NIH Research Support	000	2	5/1/2017	NON-COMPETING CONTINUATION	$230,250
														Subtotal = $330,067

Issue Date FY: 2016 ( Subtotal = $230,250 )
2016	2016	UNIVERSITY OF MIAMI	P.O. BOX 248106	CORAL GABLES	FL	33124	MIAMI-DADE	USA	Trans-NIH Research Support	000	1	5/6/2016	NEW	$230,250
														Subtotal = $230,250

Grand Total All Awards = $649,463

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Functional Interaction of GBAS and SLC41A2 in Drosophila models for UDP_755

Award Number: R21GM119018

ORGANIZATION: NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 05/01/2019

PERIOD OF PERFORMANCE END DATE: 04/30/2021

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