SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

Siddharth Srivastava; Hagar Mor Shaked; Kenneth Gable; Sita D. Gupta; Xueyang Pan; Niranjanakumari Somashekarappa; Gongshe Han; Payam Mohassel; Marc Gotkine; Elizabeth Doney; Paula Goldenberg; Queenie K.G. Tan; Yi Gong; Benjamin Kleinstiver; Brian Wishart; Heidi Cope; Claudia Brito Pires; Hannah Stutzman; Rebecca C. Spillmann; Mercedes E. Alejandro; Mahshid S. Azamian; Carlos A. Bacino; Ashok Balasubramanyam; Lindsay C. Burrage; Hsiao Tuan Chao; Gary D. Clark; William J. Craigen; Hongzheng Dai; Shweta U. Dhar; Lisa T. Emrick; Alica M. Goldman; Neil A. Hanchard; Fariha Jamal; Lefkothea Karaviti; Seema R. Lalani; Brendan H. Lee; Richard A. Lewis; Ronit Marom; Paolo M. Moretti; David R. Murdock; Sarah K. Nicholas; James P. Orengo; Jennifer E. Posey; Lorraine Potocki; Jill A. Rosenfeld; Susan L. Samson; Daryl A. Scott; Alyssa A. Tran; Tiphanie P. Vogel; Michael F. Wangler; Shinya Yamamoto; Christine M. Eng; Pengfei Liu; Patricia A. Ward; Edward Behrens; Matthew Deardorff; Marni Falk; Kelly Hassey; Kathleen Sullivan; Adeline Vanderver; David B. Goldstein; Allyn Mcconkie-Rosell; Kelly Schoch; Vandana Shashi; Edward C. Smith; Jennifer A. Sullivan; Nicole M. Walley; Pankaj B. Agrawal; Alan H. Beggs; Gerard T. Berry; Lauren C. Briere; Laurel A. Cobban; Matthew Coggins; Cynthia M. Cooper; Elizabeth L. Fieg; Frances High; Ingrid A. Holm; Susan Korrick; Joel B. Krier; Sharyn A. Lincoln; Joseph Loscalzo; Richard L. Maas; Calum A. Macrae; J. Carl Pallais; Deepak A. Rao; Lance H. Rodan; Edwin K. Silverman; Joan M. Stoler; David A. Sweetser; Melissa Walker; Chris A. Walsh; Cecilia Esteves; Emily G. Kelley; Isaac S. Kohane; Undiagnosed Disease Network; Kimberly Leblanc; Alexa T. Mccray; Stephan L Zuchner; Anna Nagy; Olveen Carrasquillo; Deborah Sara Barbouth; Byron L Lam; Ta Chen Chang; Mustafa Tekin; Willa Thorson; Rosario Isasi; Jacob L McCauley

doi:10.1093/brain/awac460

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SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

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SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

Siddharth Srivastava, Hagar Mor Shaked, Kenneth Gable, Sita D. Gupta, Xueyang Pan, Niranjanakumari Somashekarappa, Gongshe Han, Payam Mohassel, Marc Gotkine, Elizabeth Doney, …

Brain (London, England : 1878), Vol.146(4), pp.1420-1435

2023-04-19

DOI: https://doi.org/10.1093/brain/awac460

PMID: 36718090

Appears in Miller School of Medicine - Latest Publications

Abstract

hereditary spastic paraplegia

ORMDLs

serine palmitoyltransferase

sphingolipids

SPTSSA

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Title: SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
Creators: Siddharth Srivastava - Boston Children's Hospital
Hagar Mor Shaked - Hadassah Medical Center
Kenneth Gable - Uniformed Services University of the Health Sciences
Sita D. Gupta - Uniformed Services University of the Health Sciences
Xueyang Pan - Baylor College of Medicine
Niranjanakumari Somashekarappa - Uniformed Services University of the Health Sciences
Gongshe Han - Uniformed Services University of the Health Sciences
Payam Mohassel - National Institute of Neurological Disorders and Stroke
Marc Gotkine - Hadassah Medical Center
Elizabeth Doney - Massachusetts Eye and Ear Infirmary
Paula Goldenberg - Massachusetts General Hospital
Queenie K.G. Tan - Duke University
Yi Gong - Massachusetts General Hospital
Benjamin Kleinstiver - Massachusetts General Hospital
Brian Wishart - Spaulding Rehabilitation Hospital
Heidi Cope - Duke University
Claudia Brito Pires - Massachusetts General Hospital
Hannah Stutzman - Massachusetts General Hospital
Rebecca C. Spillmann - Duke University
Mercedes E. Alejandro
Mahshid S. Azamian
Carlos A. Bacino
Ashok Balasubramanyam
Lindsay C. Burrage
Hsiao Tuan Chao
Gary D. Clark
William J. Craigen
Hongzheng Dai
Shweta U. Dhar - Harvard University
Lisa T. Emrick
Alica M. Goldman
Neil A. Hanchard
Fariha Jamal
Lefkothea Karaviti
Seema R. Lalani
Brendan H. Lee - St. Jude Children's Research Hospital
Richard A. Lewis
Ronit Marom
Paolo M. Moretti
David R. Murdock
Sarah K. Nicholas
James P. Orengo
Jennifer E. Posey
Lorraine Potocki
Jill A. Rosenfeld
Susan L. Samson
Daryl A. Scott
Alyssa A. Tran
Tiphanie P. Vogel
Michael F. Wangler
Shinya Yamamoto
Christine M. Eng
Pengfei Liu
Patricia A. Ward
Edward Behrens
Matthew Deardorff
Marni Falk
Kelly Hassey
Kathleen Sullivan
Adeline Vanderver
David B. Goldstein
Allyn Mcconkie-Rosell
Kelly Schoch
Vandana Shashi
Edward C. Smith
Jennifer A. Sullivan
Nicole M. Walley
Pankaj B. Agrawal
Alan H. Beggs
Gerard T. Berry
Lauren C. Briere
Laurel A. Cobban
Matthew Coggins
Cynthia M. Cooper
Elizabeth L. Fieg
Frances High
Ingrid A. Holm
Susan Korrick
Joel B. Krier
Sharyn A. Lincoln
Joseph Loscalzo
Richard L. Maas
Calum A. Macrae
J. Carl Pallais
Deepak A. Rao
Lance H. Rodan
Edwin K. Silverman
Joan M. Stoler
David A. Sweetser
Melissa Walker
Chris A. Walsh
Cecilia Esteves
Emily G. Kelley
Isaac S. Kohane
Undiagnosed Disease Network
Kimberly Leblanc
Alexa T. Mccray
Stephan L Zuchner - Leadership Department
Anna Nagy - Massachusetts General Hospital
Olveen Carrasquillo - Miller School of Medicine
Deborah Sara Barbouth - UMMG Dept of Human Genetics (Dr. John T. Macdonald Foundation)
Byron L Lam - UMMG Department of Ophthalmology
Ta Chen Chang - UMMG Department of Ophthalmology
Mustafa Tekin - UMMG Dept of Human Genetics (Dr. John T. Macdonald Foundation)
Willa Thorson - UMMG Dept of Human Genetics (Dr. John T. Macdonald Foundation)
Rosario Isasi - UMMG Dept of Human Genetics (Dr. John T. Macdonald Foundation)
Jacob L McCauley - UMMG Dept of Human Genetics (Dr. John T. Macdonald Foundation)
Publication Details: Brain (London, England : 1878), Vol.146(4), pp.1420-1435
Number of pages: 16
Academic Unit: Level 02 - Executives; Executives; Leadership Department; UMMG Department of Ophthalmology; Miller School of Medicine; UMMG Dept of Human Genetics - Clinical and Translational Genetics; UMMG Dept of Human Genetics (Dr. John T. Macdonald Foundation); UMMG Dept of Pediatrics - Neonatology; UMMG Dept of Medicine - General Internal Medicine; Medical Education; John P. Hussman Institute for Human Genomics; UMMG Department of Pediatrics
Language: English
Resource Type: Journal article
PMID: 36718090
Record Identifier: 991032796203502976