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Article ; Online: Sterol biosynthesis regulates TLR signaling and the innate immune response in a Smith-Lemli-Opitz syndrome model.

Gabor, Kristin / Mesev, Emily V / Madenspacher, Jennifer / Meacham, Julie / Rai, Prashant / Moon, Sookjin / Wassif, Christopher A / Shaikh, Saame Raza / Tucker, C J / Karmaus, Peer / Bianconi, Simona / Porter, Forbes D / Fessler, Michael B

The Journal of clinical investigation

2024 Volume 134, Issue 6

MeSH term(s)	Humans ; Smith-Lemli-Opitz Syndrome/genetics ; Cholesterol ; Immunity, Innate
Chemical Substances	Cholesterol (97C5T2UQ7J)
Language	English
Publishing date	2024-01-18
Publishing country	United States
Document type	Journal Article
ZDB-ID	3067-3
ISSN	1558-8238 ; 0021-9738
ISSN (online)	1558-8238
ISSN	0021-9738
DOI	10.1172/JCI167633
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Article ; Online: Cerebrospinal Fluid Protein Biomarker Discovery in CLN3.

Dang Do, An N / Sleat, David E / Campbell, Kiersten / Johnson, Nicholas L / Zheng, Haiyan / Wassif, Christopher A / Dale, Ryan K / Porter, Forbes D

Journal of proteome research

2023 Volume 22, Issue 7, Page(s) 2493–2508

Abstract: Syndromic CLN3-Batten is a fatal, pediatric, neurodegenerative disease caused by variants ... ...

Abstract	Syndromic CLN3-Batten is a fatal, pediatric, neurodegenerative disease caused by variants in
MeSH term(s)	Humans ; Child ; Molecular Chaperones/metabolism ; Cerebrospinal Fluid Proteins ; Membrane Glycoproteins/metabolism ; Neurodegenerative Diseases ; Proteomics ; Neuronal Ceroid-Lipofuscinoses/genetics ; Neuronal Ceroid-Lipofuscinoses/metabolism
Chemical Substances	Molecular Chaperones ; Cerebrospinal Fluid Proteins ; Membrane Glycoproteins
Language	English
Publishing date	2023-06-20
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Intramural
ZDB-ID	2078618-9
ISSN	1535-3907 ; 1535-3893
ISSN (online)	1535-3907
ISSN	1535-3893
DOI	10.1021/acs.jproteome.3c00199
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Article ; Online: Sterol O-Acyltransferase 1 (

Farhat, Nicole Y / Alexander, Derek / McKee, Kyli / Iben, James / Rodriguez-Gil, Jorge L / Wassif, Christopher A / Cawley, Niamh X / Balch, William E / Porter, Forbes D

International journal of molecular sciences

2024 Volume 25, Issue 8

Abstract: Niemann-Pick disease type C1 (NPC1) is a lysosomal disorder due to impaired intracellular cholesterol transport out of the endolysosomal compartment.. Marked heterogeneity has been observed in individuals with the ... ...

Abstract	Niemann-Pick disease type C1 (NPC1) is a lysosomal disorder due to impaired intracellular cholesterol transport out of the endolysosomal compartment.. Marked heterogeneity has been observed in individuals with the same
MeSH term(s)	Niemann-Pick Disease, Type C/genetics ; Niemann-Pick Disease, Type C/metabolism ; Humans ; Male ; Female ; Sterol O-Acyltransferase/genetics ; Sterol O-Acyltransferase/metabolism ; Niemann-Pick C1 Protein ; Child ; Polymorphism, Single Nucleotide ; Animals ; Mice ; Phenotype ; Adolescent ; Child, Preschool ; Genes, Modifier ; Adult ; Alleles ; Severity of Illness Index ; Genotype ; Intracellular Signaling Peptides and Proteins/genetics ; Intracellular Signaling Peptides and Proteins/metabolism ; Young Adult
Chemical Substances	Sterol O-Acyltransferase (EC 2.3.1.26) ; sterol O-acyltransferase 1 (EC 2.3.1.26) ; Niemann-Pick C1 Protein ; NPC1 protein, human ; Intracellular Signaling Peptides and Proteins
Language	English
Publishing date	2024-04-11
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms25084217
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Article ; Online: Brain proton MR spectroscopy measurements in CLN3 disease.

Dang Do, An N / Baker, Eva H / Farmer, Cristan A / Soldatos, Ariane G / Thurm, Audrey E / Porter, Forbes D

Molecular genetics and metabolism

2023 Volume 139, Issue 1, Page(s) 107584

Abstract: Background: CLN3 is an autosomal recessive lysosomal disorder with intracellular accumulation of ceroid-lipofuscins. CLN3 classically has onset around 4-6 years of age involving vision loss, followed by developmental regression and seizures. Symptoms ... ...

Abstract	Background: CLN3 is an autosomal recessive lysosomal disorder with intracellular accumulation of ceroid-lipofuscins. CLN3 classically has onset around 4-6 years of age involving vision loss, followed by developmental regression and seizures. Symptoms are progressive and result in premature death. Because treatments are under development, here we explore magnetic resonance spectroscopy (MRS) measurements of metabolite levels in the brain as a potential objective outcome measures. Methods: Individuals with genetically confirmed CLN3 were enrolled from October 2017-November 2021 in a prospective natural history study (NCT033007304). Baseline concentrations of brain metabolites measured by MRS were compared to concurrently collected dimensional assessment measures: Vineland-3 Adaptive Behavior Composite (ABC) score, verbal intelligence quotient (VIQ), and the Physical, Capability with actual vision, and Clinical global impression of change sub-domains of the Unified Batten Disease Rating Scale (UBDRS). Results: 27 participants with typical CLN3 presentation (15F:12M; ages 6.0-20.7 years) completed MRS, ABC, and UBDRS; 20 (12F:8M; ages 6.5-20.7 years) also completed the VIQ assessment. N-acetyl aspartate [B(95% CI) = -0.61(-0.78;-0.45)] and glutamine/glutamate/GABA [B(95% CI) = -0.82(-1.04;-0.6)] in the parietal gray matter (PGM) decreased across the ages. The strongest correlations between MRS metabolite measurements and the clinical severity assessments were found with N-acetyl aspartate [VIQ (ρ = 0.58), Vineland-3 ABC (ρ = 0.59), UBDRS \|ρ\| range = (0.57;0.7)] and glutamine/glutamate/GABA [VIQ (ρ = 0.57), Vineland-3 ABC (ρ = 0.60), UBDRS \|ρ\| range = (0.59;0.77)] measured in the midline PGM. These correlations were accounted for when age was considered. Conclusions: Based on their correlations to established assessments, NAA and glutamine/glutamate/GABA measured in the midline parietal gray matter may be useful indicators of CLN3 disease state. In a clinical trial, divergence of the MRS measurements and clinical severity markers from age may be useful as surrogate measures for treatment responses.
MeSH term(s)	Humans ; Child ; Adolescent ; Young Adult ; Adult ; Protons ; Membrane Glycoproteins/metabolism ; Glutamine/metabolism ; Neuronal Ceroid-Lipofuscinoses/diagnosis ; Neuronal Ceroid-Lipofuscinoses/genetics ; Prospective Studies ; Brain/metabolism ; Magnetic Resonance Spectroscopy ; Glutamic Acid/metabolism ; gamma-Aminobutyric Acid/metabolism ; Molecular Chaperones/metabolism
Chemical Substances	Protons ; Membrane Glycoproteins ; Glutamine (0RH81L854J) ; Glutamic Acid (3KX376GY7L) ; gamma-Aminobutyric Acid (56-12-2) ; CLN3 protein, human ; Molecular Chaperones
Language	English
Publishing date	2023-04-15
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural
ZDB-ID	1418518-0
ISSN	1096-7206 ; 1096-7192
ISSN (online)	1096-7206
ISSN	1096-7192
DOI	10.1016/j.ymgme.2023.107584
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Article: Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1.

Chen, Oscar C W / Siebel, Stephan / Colaco, Alexandria / Nicoli, Elena-Raluca / Platt, Nick / Shepherd, Dawn / Newman, Stephanie / Armitage, Andrew E / Farhat, Nicole Y / Seligmann, George / Smith, Claire / Smith, David A / Abdul-Sada, Alaa / Jeyakumar, Mylvaganam / Drakesmith, Hal / Porter, Forbes D / Platt, Frances M

Wellcome open research

2023 Volume 7, Page(s) 267

Abstract: ... ...

Abstract	Background
Language	English
Publishing date	2023-04-03
Publishing country	England
Document type	Journal Article
ISSN	2398-502X
ISSN	2398-502X
DOI	10.12688/wellcomeopenres.17261.2
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Article: Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency".

Rahhal, Samar / Farmer, Cristan / Thurm, Audrey / Wassif, Christopher A / Cawley, Niamh X / Perreault, John / Dang Do, An / Bianconi, Simona / Hannah-Shmouni, Fady / Guthrie, Whitney / Cubit, Laura S / Miller, Judith S / Sutton, V Reid / Koeberl, Dwight / Porter, Forbes D

Molecular genetics and metabolism reports

2023 Volume 37, Page(s) 101013

Abstract: This corrects the article DOI: 10.1016/j.ymgmr.2023.101001.]. ...

Abstract	[This corrects the article DOI: 10.1016/j.ymgmr.2023.101001.].
Language	English
Publishing date	2023-10-09
Publishing country	United States
Document type	Published Erratum
ZDB-ID	2821908-9
ISSN	2214-4269
ISSN	2214-4269
DOI	10.1016/j.ymgmr.2023.101013
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Article ; Online: Phenotype assessment for neurodegenerative murine models with ataxia and application to Niemann-Pick disease, type C1.

Yerger, Julia / Cougnoux, Antony C / Abbott, Craig B / Luke, Rachel / Clark, Tannia S / Cawley, Niamh X / Porter, Forbes D / Davidson, Cristin D

Biology open

2022 Volume 11, Issue 4

Abstract: Identifying meaningful predictors of therapeutic efficacy from preclinical studies is challenging. However, clinical manifestations occurring in both patients and mammalian models offer significant translational value. Many neurological disorders, ... ...

Abstract	Identifying meaningful predictors of therapeutic efficacy from preclinical studies is challenging. However, clinical manifestations occurring in both patients and mammalian models offer significant translational value. Many neurological disorders, including inherited, metabolic Niemann-Pick disease, type C (NPC), exhibit ataxia. Both individuals with NPC and murine models manifest ataxia, and investigational therapies impacting this phenotype in mice have been reported to slow disease progression in patients (e.g. miglustat, intrathecal 2-hydroxypropyl-beta-cyclodextrin, and acetyl-L-leucine). Reproducible phenotypic scoring of animal models can facilitate comparisons between genotypes, sexes, disease course, and therapies. Previously, other groups have developed a composite phenotypic scoring system (CPSS), which was subsequently used to distinguish strain-dependent phenotypes and, with modifications, to evaluate potential therapies. However, high inter-rater reliability is paramount to widespread use. We have created a comprehensive, easy-to-follow phenotypic assessment based on the CPSS and have verified its reproducibility using murine models of NPC disease. Application of this scoring system is not limited to NPC disease and may be applicable to other models of neurodegeneration exhibiting motor incoordination, thereby increasing its utility in translational studies.
MeSH term(s)	Animals ; Ataxia/diagnosis ; Ataxia/etiology ; Disease Models, Animal ; Humans ; Mammals ; Mice ; Niemann-Pick Disease, Type C/diagnosis ; Niemann-Pick Disease, Type C/drug therapy ; Niemann-Pick Disease, Type C/genetics ; Phenotype ; Reproducibility of Results
Language	English
Publishing date	2022-05-03
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2632264-X
ISSN	2046-6390 ; 2046-6390
ISSN (online)	2046-6390
ISSN	2046-6390
DOI	10.1242/bio.059052
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Article: Statins for Smith-Lemli-Opitz syndrome.

Ballout, Rami A / Bianconi, Simona / Livinski, Alicia / Fu, Yi-Ping / Remaley, Alan T / Porter, Forbes D

The Cochrane database of systematic reviews

2020 Volume 2020, Issue 1

Abstract: This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: 1. To evaluate the efficacy of statin therapy in reducing the frequency or severity of the neurobehavioral abnormalities seen in people with SLOS (e.g. aggression, ... ...

Abstract	This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: 1. To evaluate the efficacy of statin therapy in reducing the frequency or severity of the neurobehavioral abnormalities seen in people with SLOS (e.g. aggression, anxiety, irritability, self-mutilation, autistic behaviors, sleep disturbances, etc.) (Wassif 2017). 2. To evaluate the potential effects of statin therapy on survival.
Language	English
Publishing date	2020-03-16
Publishing country	England
Document type	Journal Article
ISSN	1469-493X
ISSN	1469-493X
DOI	10.1002/14651858.cd013521
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Article ; Online: Anesthesia outcomes in lysosomal disorders: CLN3 and GM1 gangliosidosis.

Luckett, Amelia / Yousef, Muhammad / Tifft, Cynthia / Jenkins, Kisha / Smith, Andrew / Munoz, Andrea / Quimby, Rachel / Porter, Forbes D / Dang Do, An Ngoc

American journal of medical genetics. Part A

2022 Volume 191, Issue 3, Page(s) 711–717

Abstract: Natural history studies of pediatric rare neurometabolic diseases are important to understand disease pathophysiology and to inform clinical trial outcome measures. Some data collections require sedation given participants' age and neurocognitive ... ...

Abstract	Natural history studies of pediatric rare neurometabolic diseases are important to understand disease pathophysiology and to inform clinical trial outcome measures. Some data collections require sedation given participants' age and neurocognitive impairment. To evaluate the safety of sedation for research procedures, we reviewed medical records between April 2017 and October 2019 from a natural history study for CLN3 (NCT03307304) and one for GM1 gangliosidosis (NCT00029965). Twenty-two CLN3 individuals underwent 28 anesthetic events (age median 11.0, IQR 8.4-15.3 years). Fifteen GM1 individuals had 19 anesthetic events (9.8, 7.1-14.7). All participants had the American Society of Anesthesiology classification of II (8/47) or III (39/47). Mean sedation durations were 186 (SD = 54; CLN3) and 291 (SD = 33; GM1) min. Individuals with GM1 (6/19, 31%) were more frequently prospectively intubated for sedation (CLN3 3/28, 11%). Minor adverse events associated with sedation occurred in 8/28 (28%, CLN3) and 6/19 (32%, GM1) individuals, frequencies within previously reported ranges. No major adverse clinical outcomes occurred in 47 anesthetic events in pediatric participants with either CLN3 or GM1 gangliosidosis undergoing research procedures. Sedation of pediatric individuals with rare neurometabolic diseases for research procedures is safe and allows for the collection of data integral to furthering their understanding and treatment.
MeSH term(s)	Adolescent ; Child ; Humans ; Anesthesia ; Anesthesiology ; beta-Galactosidase ; G(M1) Ganglioside ; Gangliosidosis, GM1/genetics ; Lysosomes ; Membrane Glycoproteins/genetics ; Molecular Chaperones/genetics ; Rare Diseases ; Retrospective Studies
Chemical Substances	beta-Galactosidase (EC 3.2.1.23) ; CLN3 protein, human ; G(M1) Ganglioside (37758-47-7) ; Membrane Glycoproteins ; Molecular Chaperones
Language	English
Publishing date	2022-12-02
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Intramural
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.63064
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Zs.A 1376/A: Show issues

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Article ; Online: Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.

Abdennadher, Myriam / Inati, Sara K / Rahhal, Samar / Khan, Omar / Bartolini, Luca / Thurm, Audrey / Theodore, William / Miller, Judith S / Porter, Forbes D / Bianconi, Simona

American journal of medical genetics. Part A

2023 Volume 194, Issue 2, Page(s) 337–345

Abstract: Seizures occur in up to 59% of boys with creatine transporter deficiency (CTD). While seizure phenotypes have been previously described, electroencephalogram (EEG) findings have only been reported in several case reports. In this prospective ... ...

Abstract	Seizures occur in up to 59% of boys with creatine transporter deficiency (CTD). While seizure phenotypes have been previously described, electroencephalogram (EEG) findings have only been reported in several case reports. In this prospective observational study, we report seizure characteristics and EEG findings in combination with neurobehavioral and SLC6A8 pathogenic variants in twenty males with CTD. Eighteen study participants (SP) underwent video-EEG, and seven had follow-up EEG recordings. Seizures typically occurred by age of 2 years. Thirteen (65%) had non-febrile seizures, requiring anti-seizure medications in nine. Four had febrile seizures. Seizures were bilateral tonic-clonic in 7 SP and focal impaired awareness in 5 SP; often responding to 1 to 2 antiseizure medications. EEG showed slowing in 5 SP, beta activity in 6 SP, and focal/multifocal, and/or generalized epileptiform activity in 9 SP. Follow-up EEGs in 7 SP showed emergence of epileptiform activity in 1 SP, and increased activity in 2 SP. In conclusion, seizures were frequent in our cohort but tended to respond to antiseizure medications. Longitudinal follow up provided further insight into emergence of seizures and EEG abnormalities soliciting future studies with long term follow up. Biomarkers of epileptogenicity in CTD are needed to predict seizures in this population.
MeSH term(s)	Male ; Humans ; Child, Preschool ; Electroencephalography ; Brain Diseases, Metabolic, Inborn ; Mutation ; Seizures/diagnosis ; Seizures/drug therapy ; Seizures/genetics ; Nerve Tissue Proteins ; Plasma Membrane Neurotransmitter Transport Proteins/genetics ; Mental Retardation, X-Linked ; Creatine/deficiency
Chemical Substances	SLC6A8 protein, human ; Nerve Tissue Proteins ; Plasma Membrane Neurotransmitter Transport Proteins ; Creatine (MU72812GK0)
Language	English
Publishing date	2023-10-18
Publishing country	United States
Document type	Observational Study ; Journal Article
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.63418
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