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Agenesis of Corpus Callosum
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
Agenesis of Corpus Callosum
Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis.
Alopecia
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Alzheimer Disease
Association of variants within APOE, SORL1, RUNX1, BACE1 and ALDH18A1 with dementia in Alzheimer's disease in subjects with Down syndrome.
Cataract
?1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder.
Cataract
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.
Cerebellar Ataxia
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment.
Congenital Disorders of Glycosylation
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Cryptorchidism
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.
Cutis Laxa
?1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder.
Cutis Laxa
Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.
Cutis Laxa
Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.
Cutis Laxa
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.
Cutis Laxa
Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA.
Cutis Laxa
Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis.
Cutis Laxa
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding ?(1) -pyrroline-5-carboxylate synthase (P5CS).
Cutis Laxa
Genetic analysis of Pycr1 and Pycr2 in mice.
Cutis Laxa
Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces.
Cutis Laxa
Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome.
Cutis Laxa
Predominant Motor Delay as a Major Presenting Clinical Sign in Cutis Laxa- Report of a Case with Review of Literature.
Cutis Laxa
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
Cutis Laxa
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.
Cutis Laxa
SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report.
Cutis Laxa
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Dementia
Association of variants within APOE, SORL1, RUNX1, BACE1 and ALDH18A1 with dementia in Alzheimer's disease in subjects with Down syndrome.
Down Syndrome
Association of variants within APOE, SORL1, RUNX1, BACE1 and ALDH18A1 with dementia in Alzheimer's disease in subjects with Down syndrome.
glutamate-5-semialdehyde dehydrogenase deficiency
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.
glutamate-5-semialdehyde dehydrogenase deficiency
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Hearing Loss
Glutamate-related gene expression changes with age in the mouse auditory midbrain.
HIV Infections
Reconnaissance of the candidate genes involved in the pathogenesis of human immunodeficiency virus and targeted by antiretroviral therapy.
Hyperargininemia
Neurophysiological characteristics in argininemia: a case report.
Infections
Identification of ALDH4 as a p53-inducible gene and its protective role in cellular stresses.
Joint Dislocations
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.
Joint Instability
?1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder.
Liver Neoplasms
Metabolic pathway analyses identify proline biosynthesis pathway as a promoter of liver tumorigenesis.
Megalencephaly
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Melanoma
Disruption of Proline Synthesis in Melanoma Inhibits Protein Production Mediated by the GCN2 Pathway.
Melanoma
Salubrinal in Combination With 4E1RCat Synergistically Impairs Melanoma Development by Disrupting the Protein Synthetic Machinery.
Menkes Kinky Hair Syndrome
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Metabolic Diseases
Pyrroline-5-carboxylate synthase and proline biosynthesis: from osmotolerance to rare metabolic disease.
Microcephaly
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.
Myopia
Novel Myopia Genes and Pathways Identified From Syndromic Forms of Myopia.
Neoplasms
Disruption of Proline Synthesis in Melanoma Inhibits Protein Production Mediated by the GCN2 Pathway.
Neoplasms
Inhibition of the ALDH18A1-MYCN positive feedback loop attenuates MYCN-amplified neuroblastoma growth.
Neoplasms
Proline metabolism in cancer.
Neurocutaneous Syndromes
?1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder.
Neurocutaneous Syndromes
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.
Neurocutaneous Syndromes
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Paraplegia
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
Paraplegia
Autosomal dominant SPG9: intrafamilial variability and onset during pregnancy.
Paraplegia
Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.
Paraplegia
Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia.
Paraplegia
P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9.
Paraplegia
Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
Progeria
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.
Retinitis Pigmentosa
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.
Scoliosis
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Spastic Paraplegia, Hereditary
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Spastic Paraplegia, Hereditary
Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.
Spastic Paraplegia, Hereditary
Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia.
Spastic Paraplegia, Hereditary
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment.
Spastic Paraplegia, Hereditary
Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1.
transaldolase deficiency
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Tremor
Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1.
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1.2.1.41 glutamate-5-semialdehyde dehydrogenase
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The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). 
