PMID- 31402623
OWN - NLM
STAT- MEDLINE
DCOM- 20200529
LR  - 20210616
IS  - 2328-9503 (Electronic)
IS  - 2328-9503 (Linking)
VI  - 6
IP  - 8
DP  - 2019 Aug
TI  - P5CS expression study in a new family with ALDH18A1-associated hereditary spastic 
      paraplegia SPG9.
PG  - 1533-1540
LID - 10.1002/acn3.50821 [doi]
AB  - In 2015-2016, we and others reported ALDH18A1 mutations causing dominant (SPG9A) 
      or recessive (SPG9B) spastic paraplegia. In vitro production of the ALDH18A1 
      product, Delta(1) -pyrroline-5-carboxylate synthetase (P5CS), appeared necessary for 
      cracking SPG9 disease-causing mechanisms. We now describe a baculovirus-insect 
      cell system that yields mgs of pure human P5CS and that has proven highly 
      valuable with two novel P5CS mutations reported here in new SPG9B patients. We 
      conclude that both mutations are disease-causing, that SPG9B associates with 
      partial P5CS deficiency and that it is clinically more severe than SPG9A, as 
      reflected in onset age, disability, cognitive status, growth, and dysmorphic 
      traits.
CI  - (c) 2019 The Authors. Annals of Clinical and Translational Neurology published by 
      Wiley Periodicals, Inc on behalf of American Neurological Association.
FAU - Magini, Pamela
AU  - Magini P
AD  - Medical Genetics Unit, S. Orsola-Malpighi Hospital, Bologna, Italy.
FAU - Marco-Marin, Clara
AU  - Marco-Marin C
AUID- ORCID: 0000-0002-8813-3515
AD  - Instituto de Biomedicina de Valencia of the CSIC, Valencia, Spain.
AD  - Centro para Investigacion Biomedica en Red sobre Enfermedades Raras 
      CIBERER-ISCIII, Valencia, Spain.
FAU - Escamilla-Honrubia, Juan M
AU  - Escamilla-Honrubia JM
AD  - Instituto de Biomedicina de Valencia of the CSIC, Valencia, Spain.
AD  - Centro para Investigacion Biomedica en Red sobre Enfermedades Raras 
      CIBERER-ISCIII, Valencia, Spain.
FAU - Martinelli, Diego
AU  - Martinelli D
AD  - Division of Metabolism, Bambino Gesu Children's Research Hospital, Rome, Italy.
FAU - Dionisi-Vici, Carlo
AU  - Dionisi-Vici C
AD  - Division of Metabolism, Bambino Gesu Children's Research Hospital, Rome, Italy.
FAU - Faravelli, Francesca
AU  - Faravelli F
AD  - Clinical Genetics, NE Thames Regional Genetics Service, Great Ormond Street 
      Hospital for Children, NHS Foundation Trust, London, United Kingdom.
FAU - Forzano, Francesca
AU  - Forzano F
AD  - Clinical Genetics Department, SE Thames Regional Genetics Service, Guy's & St 
      Thomas' NHS Foundation Trust, London, United Kingdom.
FAU - Seri, Marco
AU  - Seri M
AD  - Medical Genetics Unit, S. Orsola-Malpighi Hospital, Bologna, Italy.
AD  - Department of Medical and Surgical Sciences, University of Bologna, Bologna, 
      Italy.
FAU - Rubio, Vicente
AU  - Rubio V
AUID- ORCID: 0000-0001-8124-1196
AD  - Instituto de Biomedicina de Valencia of the CSIC, Valencia, Spain.
AD  - Centro para Investigacion Biomedica en Red sobre Enfermedades Raras 
      CIBERER-ISCIII, Valencia, Spain.
FAU - Panza, Emanuele
AU  - Panza E
AUID- ORCID: 0000-0002-2338-1139
AD  - Medical Genetics Unit, S. Orsola-Malpighi Hospital, Bologna, Italy.
AD  - Department of Medical and Surgical Sciences, University of Bologna, Bologna, 
      Italy.
LA  - eng
GR  - FDM/6360/Fondazione del Monte di Bologna e Ravenna/International
GR  - Fundacion Inocente Inocente/International
GR  - MINECO BFU2017-84264-P/Spanish Government/International
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20190719
PL  - United States
TA  - Ann Clin Transl Neurol
JT  - Annals of clinical and translational neurology
JID - 101623278
RN  - EC 1.2.1.3 (ALDH18A1 protein, human)
RN  - EC 1.2.1.3 (Aldehyde Dehydrogenase)
RN  - Spastic paraplegia 9, autosomal dominant
SB  - IM
MH  - Adult
MH  - Aldehyde Dehydrogenase/*genetics
MH  - Animals
MH  - Bone and Bones/*abnormalities
MH  - Cataract/*genetics
MH  - Growth Disorders/*genetics
MH  - Humans
MH  - Male
MH  - Mutation
MH  - Pedigree
MH  - Sf9 Cells
MH  - Spastic Paraplegia, Hereditary/*genetics
PMC - PMC6689680
COIS- The authors declare that they do not have any commercial or financial conflict of 
      interests.
EDAT- 2019/08/14 06:00
MHDA- 2020/05/30 06:00
PMCR- 2019/07/19
CRDT- 2019/08/13 06:00
PHST- 2019/03/02 00:00 [received]
PHST- 2019/05/14 00:00 [revised]
PHST- 2019/05/28 00:00 [accepted]
PHST- 2019/08/13 06:00 [entrez]
PHST- 2019/08/14 06:00 [pubmed]
PHST- 2020/05/30 06:00 [medline]
PHST- 2019/07/19 00:00 [pmc-release]
AID - ACN350821 [pii]
AID - 10.1002/acn3.50821 [doi]
PST - ppublish
SO  - Ann Clin Transl Neurol. 2019 Aug;6(8):1533-1540. doi: 10.1002/acn3.50821. Epub 
      2019 Jul 19.