The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism

Authors: Tokatly Latzer, Itay ^{a, b}, Hanson, Ellen ^{c, d}, Bertoldi, Mariarita ^e, DiBacco, Melissa L. ^a, Aygun, Deniz ^a, Afacan, Onur ^f, García-Cazorla, Àngeles ^g, Juliá-Palacios, Natalia ^g, Opladen, Thomas ^h, Hübschmann, Oya Kuseyri ^h, Jeltsch, Kathrin ^h, Aden, Petra ⁱ, Oppebøen, Mari ⁱ, Rotenberg, Alexander ^{a, j}, Tsuboyama, Melissa ^a, Roullet, Jean-Baptiste ^k, Pearl, Phillip L. ^{a, ⁎}

Source: In Molecular Genetics and Metabolism March 2025 144(3)

Delays in latencies of median-nerve evoked magnetic fields in patients with succinic semialdehyde dehydrogenase deficiency

Authors: Matsubara, Teppei, Khan, Sheraz, Sundaram, Padmavathi, Stufflebeam, Steven, Aygun, Deniz, DiBacco, Melissa, Roullet, Jean-Baptiste, Pearl, Phillip L., Okada, Yoshio

Source: In Clinical Neurophysiology May 2024 161:52-58

Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency

Authors: Tokatly Latzer, Itay, Bertoldi, Mariarita, Blau, Nenad, DiBacco, Melissa L., Elsea, Sarah H., García-Cazorla, Àngels, Gibson, K. Michael, Gropman, Andrea L., Hanson, Ellen, Hoffman, Carolyn, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Knerr, Ina, Lee, Henry H.C., Malaspina, Patrizia, McConnell, Alice, Opladen, Thomas, Oppebøen, Mari, Rotenberg, Alexander, Walterfang, Mark, Wang-Tso, Lee, Wevers, Ron A., Roullet, Jean-Baptiste, Pearl, Phillip L.

Source: In Molecular Genetics and Metabolism May 2024 142(1)

ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations

Authors: Afshar-Saber, Wardiya, Teaney, Nicole A., Winden, Kellen D., Jumo, Hellen, Shi, Xutong, McGinty, Gabrielle, Hubbs, Jed, Chen, Cidi, Tokatly Latzer, Itay, Gasparoli, Federico, Ebrahimi-Fakhari, Darius, Buttermore, Elizabeth D., Roullet, Jean-Baptiste, Pearl, Phillip L., Sahin, Mustafa

Source: In Neurobiology of Disease January 2024 190

Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency

Authors: Tokatly Latzer, Itay, Roullet, Jean‐Baptiste, Gibson, K. Michael, Pearl, Phillip L.

Source: Journal of inherited metabolic disease. 46(5):992-1003

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100192049663.0x000001&indx=1&recIds=ETOCvdc_100192049663.0x000001

Allosteric modulation of α1β3γ2 GABAA receptors by farnesol through the neurosteroid sites

Authors: GC, Jeevan B., Szlenk, Christopher T., Diyaolu, Ayobami, Obi, Peter, Wei, Haiyang, Shi, Xutong, Gibson, K. Michael, Natesan, Senthil, Roullet, Jean-Baptiste

Source: Biophysical journal. 122(5):849-867

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100184769116.0x000001&indx=1&recIds=ETOCvdc_100184769116.0x000001

The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency

Authors: Tokatly Latzer, Itay, Bertoldi, Mariarita, DiBacco, Melissa L., Arning, Erland, Tsuboyama, Melissa, MacMullin, Paul, Sachee, Daniyal, Rotenberg, Alexander, Lee, Henry H. C., Aygun, Deniz, Opladen, Thomas, Jeltsch, Kathrin, García‐Cazorla, Àngels, Roullet, Jean‐Baptiste, Gibson, K. Michael, Pearl, Phillip L.

Source: Epilepsia. 64(6):1516-1526

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100184657605.0x000001&indx=1&recIds=ETOCvdc_100184657605.0x000001

Farnesol brain transcriptomics in CNS inflammatory demyelination

Authors: Doyle, William J., Walters, Dana, Shi, Xutong, Hoffman, Kristina, Magori, Krisztian, Roullet, Jean-Baptiste, Ochoa-Repáraz, Javier

Source: In Clinical Immunology October 2023 255

Intestinal Dysbiosis as a component of pathophysiology in succinic semialdehyde dehydrogenase deficiency (SSADHD)

Authors: Kirby, Trevor O., Shi, Xutong, Walters, Dana, Roullet, Jean-Baptiste, Gibson, K. Michael

Source: Molecular genetics and metabolism. 135(1):42-46

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100153333594.0x000001&indx=1&recIds=ETOCvdc_100153333594.0x000001

Farnesol induces protection against murine CNS inflammatory demyelination and modifies gut microbiome

Authors: Sell, Lacey B., Ramelow, Christina C., Kohl, Hannah M., Hoffman, Kristina, Bains, Jasleen K., Doyle, William J., Strawn, Kevin D., Hevrin, Theresa, Kirby, Trevor O., Gibson, K. Michael, Roullet, Jean-Baptiste, Ochoa-Repáraz, Javier

Source: In Clinical Immunology February 2022 235

Dysbiosis of the intestinal microbiome as a component of pathophysiology in the inborn errors of metabolism

Authors: Kirby, Trevor O., Ochoa-Reparaz, Javier, Roullet, Jean-Baptiste, Gibson, K. Michael

Source: In Molecular Genetics and Metabolism January 2021 132(1):1-10

Postmortem Analyses in a Patient With Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): II. Histological, Lipid, and Gene Expression Outcomes in Regional Brain Tissue

Authors: Walters, Dana C., Lawrence, Regan, Kirby, Trevor, Ahrendsen, Jared T., Anderson, Matthew P., Roullet, Jean-Baptiste, Murphy, Eric J., Gibson, K. Michael

Source: Journal of child neurology. 36(13/14):1177-1188

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN628347242&indx=1&recIds=ETOCRN628347242

Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study

Authors: Pearl, Phillip L., DiBacco, Melissa L., Papadelis, Christos, Opladen, Thomas, Hanson, Ellen, Roullet, Jean-Baptiste, Gibson, K. Michael

Source: Journal of child neurology. 36(13/14):1153-1161

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN628347218&indx=1&recIds=ETOCRN628347218

Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism

Authors: Bose, Mousumi, Roullet, Jean-Baptiste, Gibson, K. Michael, Rizzo, William B., Mansur, Hana M., McConnell, Alice, Hoffman, Carolyn A., DiBacco, Melissa L., Pearl, Phillip L.

Source: Journal of child neurology. 36(13/14):1223-1230

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN628347291&indx=1&recIds=ETOCRN628347291

Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers

Authors: Bose, Mousumi, Cuthbertson, David D., Fraser, Marsha A., Roullet, Jean-Baptiste, Gibson, K. Michael, Schules, Dana R., Gawron, Kelly M., Gamble, Melissa B., Sacra, Kathryn M., Lopez, Melisa J., Rizzo, William B.

Source: In Molecular Genetics and Metabolism Reports December 2020 25

Temporal metabolomics in dried bloodspots suggests multipathway disruptions in aldh5a1−/− mice, a model of succinic semialdehyde dehydrogenase deficiency

Authors: Brown, Madalyn, Turgeon, Coleman, Rinaldo, Piero, Roullet, Jean-Baptiste, Gibson, K. Michael

Source: In Molecular Genetics and Metabolism December 2019 128(4):397-408

Emotional experience in parents of children with Zellweger spectrum disorders: A qualitative study

Authors: Bose, Mousumi, Mahadevan, Meena, Schules, Dana R., Coleman, Rory K., Gawron, Kelly M., Gamble, Melissa B., Roullet, Jean-Baptiste, Gibson, K. Michael, Rizzo, William B.

Source: In Molecular Genetics and Metabolism Reports June 2019 19

Metabolomic analyses of vigabatrin (VGB)-treated mice: GABA-transaminase inhibition significantly alters amino acid profiles in murine neural and non-neural tissues

Authors: Walters, Dana C., Arning, Erland, Bottiglieri, Teodoro, Jansen, Erwin E.W., Salomons, Gajja S., Brown, Madalyn N., Schmidt, Michelle A., Ainslie, Garrett R., Roullet, Jean-Baptiste, Gibson, K. Michael

Source: In Neurochemistry International May 2019 125:151-162

Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency

Authors: Brown, Madalyn, Turgeon, Coleman, Rinaldo, Piero, Pop, Ana, Salomons, Gajja S., Roullet, Jean‐Baptiste, Gibson, K. Michael

Source: JIMD reports. 53(1):29-38

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100122925360.0x000001&indx=1&recIds=ETOCvdc_100122925360.0x000001

Cellular and molecular outcomes of glutamine supplementation in the brain of succinic semialdehyde dehydrogenase‐deficient mice

Authors: Brown, Madalyn N., Gibson, K. Michael, Schmidt, Michelle A., Walters, Dana C., Arning, Erland, Bottiglieri, Teodoro, Roullet, Jean‐Baptiste

Source: JIMD reports. 56(1):58-69

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100109326431.0x000001&indx=1&recIds=ETOCvdc_100109326431.0x000001