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1. Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency

Author

Malaspina Patrizia, Picklo Matthew J, Jakobs C, Snead O Carter, and Gibson K Michael

Subjects
GABA, GHB, succinic semialdehyde dehydrogenase deficiency, aldehyde dehydrogenase 5A1, chromosome 6p22, Aldh5a1-/- mouse model, alternative splicing, AKR7A2, polymorphic variation, quantitative traits, Medicine, Genetics, QH426-470
Abstract

Abstract Succinic semialdehyde dehydrogenase (SSADH; aldehyde dehydrogenase 5A1 [ALDH5A1]; locus 6p22) occupies a central position in central nervous system (CNS) neurotransmitter metabolism as one of two enzymes necessary for γ-aminobutyric acid (GABA) recycling from the synaptic cleft. Its importance is highlighted by the neurometabolic disease associated with its inherited deficiency in humans, as well as the severe epileptic phenotype observed in Aldh5a1-/- knockout mice. Expanding evidence now suggests, however, that even subtle decreases in human SSADH activity, associated with rare and common single nucleotide polymorphisms, may produce subclinical pathological effects. SSADH, in conjunction with aldo-keto reductase 7A2 (AKR7A2), represent two neural enzymes responsible for further catabolism of succinic semialdehyde, producing either succinate (SSADH) or γ-hydroxybutyrate (GHB; AKR7A2). A GABA analogue, GHB is a short-chain fatty alcohol with unusual properties in the CNS and a long pharmacological history. Moreover, SSADH occupies a further role in the CNS as the enzyme responsible for further metabolism of the lipid peroxidation aldehyde 4-hydroxy-2-nonenal (4-HNE), an intermediate known to induce oxidant stress. Accordingly, subtle decreases in SSADH activity may have the capacity to lead to regional accumulation of neurotoxic intermediates (GHB, 4-HNE). Polymorphisms in SSADH gene structure may also associate with quantitative traits, including intelligence quotient and life expectancy. Further population-based studies of human SSADH activity promise to reveal additional properties of its function and additional roles in CNS tissue.

Published
2009
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5. Biochemical Studies

Author

Gibson, K. M., Jakobs, C., Hoffmann, Georg F., editor, Zschocke, Johannes, editor, and Nyhan, William L., editor

Published
2010
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12. Disorders of Neurotransmitters

Author

Jaeken, J., Jakobs, C., Fernandes, John, editor, Saudubray, Jean-Marie, editor, Van den Berghe, Georges, editor, Tada, K., editor, and Buist, N. R. M., editor

Published
1995
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15. Spatial variability of the snowmelt–albedo feedback in Antarctica

Author

Jakobs, C. L., Reijmer, C. H., van den Broeke, M. R., van de Berg, W. J., van Wessem, J. M., Jakobs, C. L., Reijmer, C. H., van den Broeke, M. R., van de Berg, W. J., and van Wessem, J. M.

Abstract

Surface melt is an important process for the stability of ice shelves, and therewith the Antarctic ice sheet. In Antarctica, absorption of solar radiation is mostly the largest energy source for surface melt, which is further enhanced by the snowmelt-albedo feedback (SMAF): Refrozen snow has a lower albedo than new snow, which causes it to absorb more solar radiation, further increasing the energy available for surface melt. This feedback has previously been shown to increase surface melt by approximately a factor of 2.5 at Neumayer Station in East Antarctica. In this study, we use a regional climate model to quantify SMAF for the entire Antarctic ice sheet. We find that it is most effective on ice shelves in East Antarctica, and is less important in the Antarctic Peninsula and on the Ross and Filchner-Ronne ice shelves. We identify a relationship between SMAF and average summer 2 m air temperatures, and find that SMAF is most important around 265 ± 2 K. On a subseasonal scale, we identify several parameters that contribute to SMAF: the length of dry periods, the time between significant snowfall events and snowmelt events, and prevailing temperatures. We then apply the same temperature dependency of SMAF to the Greenland ice sheet and find that it is potentially active in a narrow band around the ice sheet, and finally discuss how the importance of SMAF could change in a warming climate.

Published
2021

16. Spatial variability of the snowmelt–albedo feedback in Antarctica

Author

Sub Dynamics Meteorology, Marine and Atmospheric Research, Jakobs, C. L., Reijmer, C. H., van den Broeke, M. R., van de Berg, W. J., van Wessem, J. M., Sub Dynamics Meteorology, Marine and Atmospheric Research, Jakobs, C. L., Reijmer, C. H., van den Broeke, M. R., van de Berg, W. J., and van Wessem, J. M.

Published
2021

35. Low elevation of Svalbard glaciers drives high mass loss variability

Author

Sub Dynamics Meteorology, Marine and Atmospheric Research, Noël, Brice, Jakobs, C. L., van Pelt, W. J. J., Lhermitte, S., Wouters, B., Kohler, J., Hagen, J. O., Luks, B., Reijmer, C. H., van de Berg, W. J., van den Broeke, M. R., Sub Dynamics Meteorology, Marine and Atmospheric Research, Noël, Brice, Jakobs, C. L., van Pelt, W. J. J., Lhermitte, S., Wouters, B., Kohler, J., Hagen, J. O., Luks, B., Reijmer, C. H., van de Berg, W. J., and van den Broeke, M. R.

Published
2020

36. Low elevation of Svalbard glaciers drives high mass loss variability

Author

Noël, Brice (author), Jakobs, C. L. (author), van Pelt, W. J.J. (author), Lhermitte, S.L.M. (author), Wouters, B. (author), Kohler, J. (author), Hagen, J. O. (author), Luks, B. (author), Reijmer, C. H. (author), van de Berg, W. J. (author), van den Broeke, M. R. (author), Noël, Brice (author), Jakobs, C. L. (author), van Pelt, W. J.J. (author), Lhermitte, S.L.M. (author), Wouters, B. (author), Kohler, J. (author), Hagen, J. O. (author), Luks, B. (author), Reijmer, C. H. (author), van de Berg, W. J. (author), and van den Broeke, M. R. (author)

Abstract

Compared to other Arctic ice masses, Svalbard glaciers are low-elevated with flat interior accumulation areas, resulting in a marked peak in their current hypsometry (area-elevation distribution) at ~450 m above sea level. Since summer melt consistently exceeds winter snowfall, these low-lying glaciers can only survive by refreezing a considerable fraction of surface melt and rain in the porous firn layer covering their accumulation zones. We use a high-resolution climate model to show that modest atmospheric warming in the mid-1980s forced the firn zone to retreat upward by ~100 m to coincide with the hypsometry peak. This led to a rapid areal reduction of firn cover available for refreezing, and strongly increased runoff from dark, bare ice areas, amplifying mass loss from all elevations. As the firn line fluctuates around the hypsometry peak in the current climate, Svalbard glaciers will continue to lose mass and show high sensitivity to temperature perturbations., Mathematical Geodesy and Positioning, Physical and Space Geodesy

Published
2020
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47. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Author

van de Kamp, J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Grünewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, M A, Cheillan, D, D’Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, von der Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, M C, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, C E, Schwenger, S, Soares, G, Sznajer, Y, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, M M C, Pouwels, P J W, Errami, A, van der Knaap, M S, Jakobs, C, Mancini, G M, and Salomons, G S

Published
2013
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50. Creatine

Author

Salomons, G, primary, Jakobs, C, additional, and Wyss, M, additional

Published
2010
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