SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants

Types A and B Niemann-Pick disease

(2015) Edward H. Schuchman et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Four Novel p.N385K, p.V36A, c.1033–1034insT and c.1417–1418delCT Mutations in the Sphingomyelin Phosphodiesterase 1 (SMPD1) Gene in Patients with Types A and B Niemann-Pick Disease (NPD)

(2015) Masoumeh Manshadi et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A novel missense SMPD1 gene mutation, T460P, and clinical findings in a patient with Niemann-Pick disease type B presenting to a lipid disorders clinic

(2014) Y. Grasko et al.   ANNALS OF CLINICAL BIOCHEMISTRY

Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann–Pick disease patients: Mutation profile and description of a novel mutation

(2013) A. Aykut et al.   GENE

A rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease

(2013) Jia-Nee Foo et al.   NEUROBIOLOGY OF AGING

The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease

(2013) Z. Gan-Or et al.   NEUROLOGY

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease

(2013) Huiwen Zhang et al.   Orphanet Journal of Rare Diseases

Identification of seven novelSMPD1mutations causing Niemann-Pick disease types A and B

(2012) P Irun et al.   CLINICAL GENETICS

Two Siblings with Niemann-Pick Disease (NPD) Type B: Clinical Findings and Novel Mutations of the Acid Sphingomyelinase Gene

(2012) Zoran Gucev et al.   INDIAN JOURNAL OF PEDIATRICS

Infant with Type A Niemann Pick Disease and Undetectable Niemann Pick Cells in Bone Marrow

(2012) Sharmila Banerjee Mukherjee et al.   INDIAN PEDIATRICS

Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients

(2012) C.E.M. Hollak et al.   MOLECULAR GENETICS AND METABOLISM

PAS-positive macrophages—not always infection

(2011) Wouter Meersseman et al.   LANCET

A Novel Mechanism of Lysosomal Acid Sphingomyelinase Maturation

(2010) Russell W. Jenkins et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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(2010) Jonathan Desnick et al.   MOLECULAR MEDICINE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Acid sphingomyelinase possesses a domain homologous to its activator proteins: Saposins B and D

(2010) Christopher P. Ponting   PROTEIN SCIENCE

Identification and characterization ofSMPD1mutations causing Niemann-Pick types A and B in Spanish patients

(2009) Laura Rodríguez-Pascau et al.   HUMAN MUTATION

A Case of a Korean Adult Affected by Type B Niemann-Pick Disease: Secondary Sea-blue Histiocytosis and Molecular Characterization

(2009) Young-Uk Cho et al.   Korean Journal of Laboratory Medicine

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

SROOGLE: webserver for integrative, user-friendly visualization of splicing signals

(2009) S. Schwartz et al.   NUCLEIC ACIDS RESEARCH

A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann–Pick disease

(2008) Min-Yu Lan et al.   ANNALS OF HEMATOLOGY

Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models

(2008) Iwan Jones et al.   MOLECULAR GENETICS AND METABOLISM

A model of the acid sphingomyelinase phosphoesterase domain based on its remote structural homolog purple acid phosphatase

(2004) Marian Seto et al.   PROTEIN SCIENCE