Summary of project PR002783
This data is available at the NIH Common Fund's National Metabolomics Data Repository (NMDR) website, the Metabolomics Workbench, https://www.metabolomicsworkbench.org, where it has been assigned Project ID PR002783. The data can be accessed directly via it's Project DOI: 10.21228/M8XK1H This work is supported by NIH grant, U2C- DK119886. See: https://www.metabolomicsworkbench.org/about/howtocite.php
| Project ID: | PR002783 |
| Project DOI: | doi: 10.21228/M8XK1H |
| Project Title: | Metabolic Reprogramming during Human Neuron Differentiation Indicates Glutaminase as a Key Determinant in Fragile X Syndrome |
| Project Summary: | Metabolic homeostasis gone awry is a contributor to, if not an underlying cause of, several neurologic disorders. Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by a trinucleotide repeat expansion in FMR1 and consequent loss of the encoded protein FMRP, which results in downstream molecular, neurologic, and mitochondrial deficits that are linked to cognitive impairment. In human postmortem brain, many metabolites and solute carrier proteins are coordinately dysregulated, which also occurs during differentiation of human iPSCs into excitatory neurons. Metabolic tracing in FXS neurons demonstrates a dearth of glutamine deamidation to glutamate, which reduces anaplerosis into the TCA cycle, potentially hindering bioenergetic and biosynthetic functions of mitochondria. Mechanistically, aberrant expression of glutaminase isoforms in FXS is responsible for reduced glutaminolysis, thereby altering glutamate levels which may contribute to FXS. |
| Institute: | UMass Chan Medical School |
| Last Name: | UMass Chan |
| First Name: | Richter Lab |
| Address: | 55 Lake Avenue North, Worcester, Massachusetts, 01605, USA |
| Email: | spinellilab@gmail.com |
| Phone: | (508) 856-8989 ext. 68148 |
Summary of all studies in project PR002783
| Study ID | Study Title | Species | Institute | Analysis(* : Contains Untargted data) | Release Date | Version | Samples | Download(* : Contains raw data) |
|---|---|---|---|---|---|---|---|---|
| ST004390 | Polar metabolites profiling between Human Fragile X Syndrome (FXS) and typically developing (TD) human cortex. | Homo sapiens | UMass Chan Medical School | MS | 2025-12-02 | 1 | 12 | Uploaded data (1.4G)* |
| ST004391 | Polar metabolites profiling between Human Fragile X Syndrome (FXS) and typically developing (TD) human cerebellum. | Homo sapiens | UMass Chan Medical School | MS | 2025-12-02 | 1 | 12 | Uploaded data (1.1G)* |
| ST004392 | Polar metabolic differences in cortex and hippocampus of wild-type (WT) and Fmr1 KO mice. | Mus musculus | UMass Chan Medical School | MS | 2025-12-01 | 1 | 16 | Uploaded data (2G)* |
| ST004393 | Polar metabolites profiling in Human Fragile X Syndrome (FXS) and typically developing (TD) human plasma. | Homo sapiens | UMass Chan Medical School | MS | 2025-12-01 | 1 | 12 | Uploaded data (1.7G)* |
| ST004394 | Intracellular polar Metabolomics on Lymphoblastoid cell lines (LCL) between individuals with Fragile X Syndrome (FXS) and from typically developing (TD) male controls. | Homo sapiens | UMass Chan Medical School | MS | 2025-12-01 | 1 | 8 | Uploaded data (0.9G)* |
| ST004395 | Extracellular polar Metabolomics on Lymphoblastoid cell lines (LCL) between individuals with Fragile X Syndrome (FXS) and from typically developing (TD) male controls. | Homo sapiens | UMass Chan Medical School | MS | 2025-12-01 | 1 | 9 | Uploaded data (1G)* |
| ST004396 | More intracellular polar metabolomics on Lymphoblastoid cell lines (LCL) between individuals with Fragile X Syndrome (FXS) and from typically developing (TD) male controls. (Repeat on cell from more patients) | Homo sapiens | UMass Chan Medical School | MS | 2025-12-01 | 1 | 4 | Uploaded data (448.8M)* |
| ST004397 | [¹³C₅,¹⁵N₂]-glutamine stable isotope tracing in TD, FXS2 (partial FMRP), and FXS1 (no FMRP) from Lymphoblastoid cell lines (LCL) | Homo sapiens | UMass Chan Medical School | MS | 2025-12-01 | 1 | 19 | Uploaded data (2G)* |
| ST004398 | Polar metabolomics on neural progenitor cells (NPCs) generated using the dual SMAD inhibition method from Fragile X Syndrome (FXS) and typically developing (TD) induced pluripotent stem cells (iPSCs). | Homo sapiens | UMass Chan Medical School | MS | 2025-12-01 | 1 | 12 | Uploaded data (1.8G)* |
| ST004399 | Intracellular polar metabolomics on neural progenitor cells (NPCs) generated using dual SMAD inhibition method from Fragile X Syndrome (FXS) and CRISPR edited isogenic rescue induced pluripotent stem cells (iPSCs). | Homo sapiens | UMass Chan Medical School | MS | 2025-12-01 | 1 | 12 | Uploaded data (1.6G)* |
| ST004400 | Extracellular polar metabolomics on media neural progenitor cells (NPCs) generated using dual SMAD inhibition method from FXS and CRISPR edited isogenic rescue induced pluripotent stem cells (iPSCs) | Homo sapiens | UMass Chan Medical School | MS | 2025-12-01 | 1 | 12 | Uploaded data (1.5G)* |
| ST004401 | Polar metabolomics on extracellular media of induced pluripotent stem cells (iPSC) derived forebrain excitatory neurons generated from a FXS and CRISPR edited isogenic control. | Homo sapiens | UMass Chan Medical School | MS | 2025-12-01 | 1 | 12 | Uploaded data (1.4G)* |
| ST004402 | Polar metabolomics on intracellular media of induced pluripotent stem cells (iPSC) derived forebrain excitatory neurons generated from a FXS and CRISPR edited isogenic control. | Homo sapiens | UMass Chan Medical School | MS | 2025-12-01 | 1 | 10 | Uploaded data (1.1G)* |
| ST004403 | Polar metabolomics on cell pellets and extracellular media of 4-week iPSC derived forebrain excitatory neurons generated from a FXS and CRISPR edited isogenic control. | Homo sapiens | UMass Chan Medical School | MS | 2025-12-01 | 1 | 13 | Uploaded data (1.7G)* |
| ST004404 | L-Glutamine-13C5,15N2 stable isotope tracing on cell and media of 4-week iPSC derived forebrain excitatory neurons generated from a FXS and CRISPR edited isogenic control. | Homo sapiens | UMass Chan Medical School | MS | 2025-12-01 | 1 | 14 | Uploaded data (1.7G)* |
