Last update 01 Nov 2024

PTDSS1

Last update 01 Nov 2024

Basic Info

Synonyms

KIAA0024, phosphatidylserine synthase 1, PSS-1

+ [5]

Introduction

Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine (PubMed:19014349, PubMed:24241535). Catalyzes mainly the conversion of phosphatidylcholine (PubMed:19014349, PubMed:24241535). Also converts, in vitro and to a lesser extent, phosphatidylethanolamine (PubMed:19014349, PubMed:24241535).

Drugs associated with PTDSS1

SAB-Y27

Target

PTDSS1

Mechanism

PTDSS1 modulators

Active Org.

Syntab Therapeutics

Originator Org.

Syntab Therapeutics

Active Indication

Neoplasms

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

SAB-Y27-59

Target

PTDSS1

Mechanism

PTDSS1 modulators

Active Org.

Syntab Therapeutics

Originator Org.

Syntab Therapeutics

Active Indication

Neoplasms

Inactive Indication-

Drug Highest PhaseDiscovery

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with PTDSS1

100 Translational Medicine associated with PTDSS1

0 Patents (Medical) associated with PTDSS1

164

Literatures (Medical) associated with PTDSS1

01 Nov 2024·The Plant Journal

Kinesin‐1‐like protein PSS1 is essential for full‐length homologous pairing and synapsis in rice meiosis

Article

Author: Cheng, Zhukuan ; Wang, Bingxin ; Zhou, Yue ; Yu, Hengxiu ; Shen, Yi ; Tang, Ding ; Wen, Minsi ; Chen, Jiawei ; You, Hanli ; Li, Yafei ; Zhang, Yansong

SUMMARYThe pairing and synapsis of homologous chromosomes are crucial for their correct segregation during meiosis. The LINC (Linker of Nucleoskeleton and Cytoskeleton) complex can recruit kinesin protein at the nuclear envelope, affecting telomere bouquet formation and homologous pairing. Kinesin‐1‐like protein Pollen Semi‐Sterility1 (PSS1) plays a pivotal role in male meiotic chromosomal behavior and is essential for fertility in rice. However, its exact role in meiosis, especially as kinesin involved in homologous pairing and synapsis, has not been fully elucidated. Here, we generated three pss1 mutants by genome editing technology to dissect PSS1 biological functions in meiosis. The pss1 mutants exhibit alterations in the radial microtubule organization at pachytene and manifest a deficiency in telomere clustering, which is critical for full‐length homologous pairing. We reveal that PSS1 serves as a key mediator between chromosomes and cytoskeleton, thereby regulating microtubule organization and transmitting the force to nuclei to facilitate homologous chromosome pairing and synapsis in meiosis.

01 Oct 2024·Cell

Molecular insights into human phosphatidylserine synthase 1 reveal its inhibition promotes LDL uptake

Article

Author: Long, Tao ; Li, Dongyu ; Vale, Goncalo ; Schmiege, Philip ; McDonald, Jeffrey G. ; Jiang, Yaoyukun ; McDonald, Jeffrey G ; Yang, Zhongyue J ; Yang, Zhongyue J. ; Li, Xiaochun

In mammalian cells, two phosphatidylserine (PS) synthases drive PS synthesis. Gain-of-function mutations in the Ptdss1 gene lead to heightened PS production, causing Lenz-Majewski syndrome (LMS). Recently, pharmacological inhibition of PSS1 has been shown to suppress tumorigenesis. Here, we report the cryo-EM structures of wild-type human PSS1 (PSS1^WT), the LMS-causing Pro269Ser mutant (PSS1^P269S), and PSS1^WT in complex with its inhibitor DS55980254. PSS1 contains 10 transmembrane helices (TMs), with TMs 4-8 forming a catalytic core in the luminal leaflet. These structures revealed a working mechanism of PSS1 akin to the postulated mechanisms of the membrane-bound O-acyltransferase family. Additionally, we showed that both PS and DS55980254 can allosterically inhibit PSS1 and that inhibition by DS55980254 activates the SREBP pathways, thus enhancing the expression of LDL receptors and increasing cellular LDL uptake. This work uncovers a mechanism of mammalian PS synthesis and suggests that selective PSS1 inhibitors have the potential to lower blood cholesterol levels.

01 Apr 2024·European Journal of Medical Genetics

Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?

Article

Author: Çaksen, Hüseyin ; Erol Aytekin, Selma ; Keleş, Sevgi ; Balasar, Özgür ; Maden Bedel, Fayize

Lenz-Majewski hyperostotic dwarfism (LMHD) is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, dysmorphic facial features, brachydactyly, symphalangism and cutis laxa. Nineteen cases have been reported in the literature so far, eleven of them with PTDSS1 mutations. Although studies have had clinically similar findings, in some cases the authors have reported even rarer features such as hydrocephalus, facial paralysis, and cleft palate. We, hereby, report the case of the first patient with Lenz-Majewski syndrome (LMS) with molecular confirmation from Turkey. Although our patient had characteristic features described in the literature, she also had immunodeficiency, which has not been reported before. Although there is no established phenotype-genotype correlation, molecular mechanisms can be explained with the reporting of more patients.

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PTDSS1

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