September 2019
Volume 60Issue 9p1491-1642
Open Access
COVER: Sphingosine phosphate lyase (SPL) is the final enzyme in the sphingolipid degradative
pathway, catalyzing the irreversible cleavage of the bioactive signaling lipid sphingosine-1-phosphate
(S1P) and other long chain base phosphates to yield a long-chain aldehyde and ethanolamine
phosphate. The main features of SPL enzyme activity were first described in detail
by Stoffel and colleagues in 1969. Over the next fifty years, additional milestones
were achieved in elucidating protein structure and physiological relevance of SPL.
In 2017, recessive mutations in the human SPL gene SGPL1 were discovered as the cause of a novel inborn error of metabolism— SPL Insufficiency
Syndrome, or SPLIS—associated with nephrosis, immunodeficiency, endocrine defects,
acanthosis, and neurological problems. (See Saba in the JLR March issue, p. 456.)...Show more
COVER: Sphingosine phosphate lyase (SPL) is the final enzyme in the sphingolipid degradative
pathway, catalyzing the irreversible cleavage of the bioactive signaling lipid sphingosine-1-phosphate
(S1P) and other long chain base phosphates to yield a long-chain aldehyde and ethanolamine
phosphate. The main features of SPL enzyme activity were first described in detail
by Stoffel and colleagues in 1969. Over the next fifty years, additional milestones
were achieved in elucidating protein structure and physiological relevance of SPL.
In 2017, recessive mutations in the human SPL gene SGPL1 were discovered as the cause of a novel inborn error of metabolism— SPL Insufficiency
Syndrome, or SPLIS—associated with nephrosis, immunodeficiency, endocrine defects,
acanthosis, and neurological problems. (See Saba in the JLR March issue, p. 456.)
